id stringlengths 2 20 | ch_id stringlengths 2 20 | keywords listlengths 0 162 | title stringlengths 0 130 | authors stringlengths 0 245 | abstract stringlengths 0 4.05k | content stringlengths 0 197k | references listlengths 0 142 | created_date stringlengths 0 10 | updated_date stringlengths 0 10 | revised_date stringlengths 0 10 | journal stringclasses 1
value | source_url stringclasses 1
value | publication_types listlengths 2 2 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
prion | prion | [
"Gerstmann-Sträussler-Scheinker Syndrome (GSS)",
"Genetic Creutzfeldt-Jakob Disease (Genetic CJD)",
"Fatal Familial Insomnia (FFI)",
"Major prion protein",
"PRNP",
"Genetic Prion Disease"
] | Genetic Prion Disease | Inga Zerr, Matthias Schmitz | Summary Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of... | Genetic Creutzfeldt-Jakob Disease (genetic CJD)
Fatal familial insomnia (FFI)
Gerstmann-Sträussler-Scheinker syndrome (GSS)
May also be referred to as familial CJD
• Genetic Creutzfeldt-Jakob Disease (genetic CJD)
• Fatal familial insomnia (FFI)
• Gerstmann-Sträussler-Scheinker syndrome (GSS)
## Diagnosis
Genet... | [] | 27/3/2003 | 7/1/2021 | 7/9/2010 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
prolidase-def | prolidase-def | [
"Xaa-Pro dipeptidase",
"PEPD",
"Prolidase Deficiency"
] | Prolidase Deficiency | Francis Rossignol, Heng Wang, Carlos Ferreira | Summary Prolidase deficiency is characterized by skin lesions (typically severe, chronic, recalcitrant, and painful skin ulcers of the lower extremities and telangiectasias of the face and hands), recurrent infections (particularly of the skin and respiratory tract), dysmorphic facial features, variable intellectual di... | ## Diagnosis
No consensus clinical diagnostic criteria for prolidase deficiency have been published.
Prolidase deficiency
Skin lesions, typically lower-extremity ulcers (
Recurrent infections, particularly of the skin and respiratory tract
Chronic lung disease with digital clubbing and a cystic fibrosis-like phe... | [] | 25/6/2015 | 7/7/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
prop1 | prop1 | [
"PROP1-Related CPHD",
"PROP1-Related CPHD",
"Homeobox protein prophet of Pit-1",
"PROP1",
"PROP1-Related Combined Pituitary Hormone Deficiency"
] | Luciani Renata Carvalho, Mirian Yumie Nishi, Fernanda Azevedo Correa, Juliana Moreira Marques, Ivo Jorge Prado Arnhold, Berenice B Mendonca | Summary Most affected individuals are ascertained because of short stature during childhood. Although TSH deficiency can present shortly after birth, TSH deficiency usually occurs with or after the onset of GH deficiency. Hypothyroidism is usually mild. FSH and LH deficiencies are typically identified at the age of ons... | ## Diagnosis
Thyroid-stimulating hormone (TSH)
The two gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH)
Prolactin (PrL)
Adrenocorticotropic hormone (ACTH) (Deficiency develops in ~50% of individuals.)
Delayed bone maturation on x-ray examination
On head MRI, normal pituitary st... | [
"RV Araujo, CV Chang, VA Cescato, MC Fragoso, MD Bronstein, BB Mendonca, IJ Arnhold, LR Carvalho. PROP1 overexpression in corticotrophinomas: evidence for the role of PROP1 in the maintenance of cells committed to corticotrophic differentiation.. Clinics (Sao Paulo) 2013;68:887-91",
"K Bajuk Studen, MA Stefanija,... | 7/12/2000 | 24/2/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
propionic-a | propionic-a | [
"Propionyl-CoA carboxylase alpha chain, mitochondrial",
"Propionyl-CoA carboxylase beta chain, mitochondrial",
"PCCA",
"PCCB",
"Propionic Acidemia"
] | Propionic Acidemia | Carolina I Galarreta Aima, Oleg A Shchelochkov, Teodoro Jerves Serrano, Charles P Venditti | Summary The spectrum of propionic acidemia (PA) ranges from neonatal onset to late-onset disease. Neonatal-onset PA, the most common form, is characterized by a healthy newborn with poor feeding and decreased arousal in the first few days of life, followed by progressive encephalopathy of unexplained origin. Without pr... | ## Diagnosis
NBS for propionic acidemia (PA) is primarily based on the quantification of propionylcarnitine (C3) and calculation of the C3/C2 ratio from the acylcarnitine profile on dried blood spots [
Propionylcarnitine (C3) and/or C3/C2 ratio values above the cutoff reported by the screening laboratory are consider... | [] | 17/5/2012 | 26/9/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
proteus | proteus | [
"AKT1-Related Overgrowth Spectrum",
"AKT1-Related Proteus Syndrome",
"RAC-alpha serine/threonine-protein kinase",
"AKT1",
"Proteus Syndrome"
] | Proteus Syndrome | Leslie G Biesecker, Julie C Sapp | Summary Proteus syndrome (PS) is characterized by progressive segmental or patchy overgrowth most commonly affecting the skeleton, skin, adipose, and central nervous systems. In most individuals PS has modest or no manifestations at birth, develops and progresses rapidly beginning in the toddler period, and relentlessl... | Proteus syndrome
Proteus syndrome (clinical diagnosis)
• Proteus syndrome
• Proteus syndrome (clinical diagnosis)
• Proteus syndrome (clinical diagnosis)
• Proteus syndrome (clinical diagnosis)
## Diagnosis
Consensus clinical diagnostic criteria for Proteus syndrome (PS) have been published [
PS
Distorting, pr... | [
"K Abell, L Tolusso, N Smith, R Hopkin, M Vawter-Lee, M Habli, S Riddle, MA Calvo-Garcia, Q Guan, K Bierbrauer, V Hwa, HM Saal. Prenatal diagnosis of Proteus syndrome: diagnosis of an AKT1 mutation from amniocytes.. Birth Defects Res. 2020;112:1733-7",
"T AlAnzi, E Al-Mashharawi, A Alhashem. Proteus syndrome caus... | 9/8/2012 | 25/5/2023 | 10/1/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
prrt2-parox | prrt2-parox | [
"PRRT2-Related Paroxysmal Kinesigenic Dyskinesia (PKD)",
"PRRT2-Related Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions (PKD/IC)",
"PRRT2-Related Hemiplegic Migraine",
"PRRT2-Related Self-Limited (Familial) Infantile Epilepsy (SeLIE)",
"Proline-rich transmembrane protein 2",
"PRRT2",
"PRRT2... | Kathryn Yang, Vincente Quiroz, Darius Ebrahimi-Fakhari | Summary The diagnosis of | ## Diagnosis
SeLIE is characterized by the following clinical and supportive findings [
Onset in first year of life (usually age 4-7 months)
Spontaneous or in context of fever
Occurring in clusters of multiple brief seizures per day: on average up to eight to ten seizures per day every two to three hours
Excellent... | [] | 11/1/2018 | 4/7/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
prs | prs | [
"PRS Superactivity",
"Ribose-phosphate pyrophosphokinase 1",
"PRPS1",
"Phosphoribosylpyrophosphate Synthetase Superactivity"
] | Phosphoribosylpyrophosphate Synthetase Superactivity | Arjan PM de Brouwer, John Christodoulou | Summary Phosphoribosylpyrophosphate synthetase (PRS) superactivity comprises two phenotypes, both characterized by hyperuricemia and hyperuricosuria. The mild phenotype (~75% of affected males) with onset in the second or third decade of life is typically limited to these biochemical findings, whereas the severe phenot... | Phosphoribosylpyrophosphate Synthetase (PRS) Superactivity: Phenotypes in Males and Females
In all males with mild PRS superactivity evaluated to date, the sequence of the
Biochemical testing is unlikely to be informative in asymptomatic females.
## Diagnosis
No consensus clinical diagnostic criteria for phosphorib... | [
"MA Becker, M Kim, K Husain, T Kang. Regulation of purine nucleotide synthesis in human B lymphoblasts with both hypoxanthine-guanine phosphoribosyltransferase and phosphoribosylpyrophosphate synthetase superactivity.. J Biol Chem 1992;267:4317-21",
"MA Becker, MJ Losman, M Kim. Mechanisms of accelerated purine n... | 23/9/2008 | 17/2/2022 | 11/1/2011 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
prss1-hp | prss1-hp | [
"Serine protease 1",
"PRSS1",
"PRSS1-Related Hereditary Pancreatitis"
] | David C Whitcomb | Summary The diagnosis of High-penetrance HP caused by gain-of-function | ## Diagnosis
The clinical features of
Acute pancreatitis occurring in childhood
Recurrent acute attacks of pancreatitis of unknown cause
Chronic pancreatitis of unknown cause, particularly with onset before age 25 years
A family history of recurrent acute pancreatitis, chronic pancreatitis, and/or childhood pancre... | [] | 1/3/2012 | 27/3/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
psach | psach | [
"Pseudoachondroplasia (PSACH)",
"Pseudoachondroplasia (PSACH)",
"Cartilage oligomeric matrix protein",
"COMP",
"COMP-Related Pseudoachondroplasia"
] | Michael D Briggs, Michael J Wright | Summary The diagnosis of | ## Diagnosis
Normal length at birth
Normal facies
Waddling gait, recognized at the onset of walking
Decline in growth rate to below the standard growth curve by approximately age two years, leading to moderately severe disproportionate short-limb short stature
Moderate brachydactyly
Ligamentous laxity and joint... | [] | 20/8/2004 | 30/11/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
ptps-def | ptps-def | [
"6-Pyruvoyl-Tetrahydropterin Synthase Deficiency",
"PTS Deficiency",
"6-Pyruvoyl-Tetrahydropterin Synthase Deficiency",
"PTS Deficiency",
"6-pyruvoyl tetrahydrobiopterin synthase",
"PTS",
"PTS-Related Tetrahydrobiopterin Deficiency"
] | Thomas Opladen, Nicola Longo, Nenad Blau | Summary In the mild (peripheral) form, affected individuals are usually asymptomatic apart from an increase in phenylalanine (Phe) levels. Some remain asymptomatic. However, with time, some have mild developmental delays and can develop deficiency of neurotransmitter production, such that treatment of some asymptomatic... | ## Diagnosis
Deficiency of tetrahydrobiopterin (BH4), a cofactor for the enzyme phenylalanine hydroxylase (PAH), can lead to accumulation of phenylalanine (Phe) in the blood (hyperphenylalaninemia). In addition, it impairs activity of tyrosine (Tyr) and tryptophan hydroxylase, leading to defective synthesis of neurotr... | [] | 10/7/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
ptt | ptt | [
"Prothrombin G20210A Thrombophilia",
"Prothrombin G20210A Thrombophilia",
"Prothrombin",
"F2",
"Prothrombin Thrombophilia"
] | Prothrombin Thrombophilia | Jody L Kujovich | Summary Prothrombin thrombophilia is characterized by venous thromboembolism (VTE) manifest most commonly in adults as deep-vein thrombosis (DVT) in the legs or pulmonary embolism. The clinical expression of prothrombin thrombophilia is variable; many individuals heterozygous or homozygous for the 20210G>A The diagnosi... | ## Diagnosis
No clinical features are specific for prothrombin thrombophilia. The diagnosis
A first unprovoked venous thromboembolism (VTE) before age 50 years
A history of recurrent VTE
Venous thrombosis at certain unusual sites such as the cerebral, mesenteric, portal, or hepatic veins
VTE during pregnancy or th... | [
"Practice Bulletin No.138: Inherited thrombophilias in pregnancy.. Obstet Gynecol. 2013;122:706-17"
] | 25/7/2006 | 4/2/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
pura-dis | pura-dis | [
"PURA Syndrome",
"5q31.3 Deletion Syndrome",
"Transcriptional activator protein Pur-alpha",
"PURA",
"PURA-Related Neurodevelopmental Disorders"
] | Margot RF Reijnders, Richard J Leventer, Bo Hoon Lee, Diana Baralle, Paulo Selber, Alex R Paciorkowski, David Hunt | Summary The diagnosis of a | 5q31.3 deletion syndrome
For synonyms and outdated names see
• 5q31.3 deletion syndrome
## Diagnosis
No formal clinical diagnostic criteria have been published for
Hypotonia
Neonatal hypoventilation
Hypothermia
Hypersomnolence
Feeding difficulties, including gastroesophageal reflux disease (GERD)
Hypotoni... | [
"MC Bonaglia, N Zanotta, R Giorda, G D'Angelo, C Zucca. Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.. Mol Cytogenet 2015;8:89",
"N Brown, T Burgess, R Forbes, G McGillivray, A Kornberg, S Mandelstam, Z. Starl. 5q31.3 Microdeletio... | 27/4/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
pws | pws | [
"Prader-Labhart-Willi Syndrome",
"Prader-Labhart-Willi Syndrome",
"Prader-Willi Syndrome"
] | Prader-Willi Syndrome | Daniel J Driscoll, Jennifer L Miller, Suzanne B Cassidy | Summary Prader-Willi syndrome (PWS) is characterized by severe hypotonia, poor appetite, and feeding difficulties in early infancy, followed in early childhood by excessive eating and gradual development of morbid obesity (unless food intake is strictly controlled). Motor milestones and language development are delayed... | ## Diagnosis
Prader-Willi syndrome (PWS)
Clinical findings differ by age group. The presence of
Hypotonia with poor appetite and suck in the neonatal period
Developmental delay
Hypotonia with history of poor suck
Developmental delay
History of hypotonia with poor suck (hypotonia often persists)
Developmen... | [] | 6/10/1998 | 9/3/2023 | 5/12/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
pxe | pxe | [
"PXE",
"PXE",
"ATP-binding cassette sub-family C member 6",
"ABCC6",
"Pseudoxanthoma Elasticum"
] | Pseudoxanthoma Elasticum | Sharon F Terry, Jouni Uitto | Summary Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. ... | ## Diagnosis
Formal diagnostic criteria for pseudoxanthoma elasticum (PXE) have been established [
PXE
Papules (darker than the skin color), usually seen on the lateral aspect of the neck or the flexural creases, such as the antecubital fossae, axillae, groin, or popliteal fossae
Plaques formed by coalescence o... | [
"JL Anderson, JL Halperin, NM Albert, B Bozkurt, RG Brindis, LH Curtis, D DeMets, RA Guyton, JS Hochman, RJ Kovacs, EM Ohman, SJ Pressler, FW Sellke, WK Shen. Management of patients with peripheral artery disease (compilation of 2005 and 2011 ACCF/AHA guideline recommendations): a report of the American College of ... | 5/6/2001 | 4/6/2020 | 2/4/2007 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
pycnodys | pycnodys | [
"Pyknodysostosis",
"Toulouse-Lautrec Syndrome",
"CTSK-Related Pyknodysostosis",
"Pyknodysostosis",
"Toulouse-Lautrec Syndrome",
"CTSK-Related Pyknodysostosis",
"Cathepsin K",
"CTSK",
"Pycnodysostosis"
] | Pycnodysostosis | Shannon LeBlanc, Ravi Savarirayan | Summary Pycnodysostosis is characterized by short-limbed short stature, typical facial appearance (convex nasal ridge and small jaw with obtuse mandibular angle), osteosclerosis with increased bone fragility, acroosteolysis of the distal phalanges, delayed closure of the cranial sutures, and dysplasia of the clavicle. ... | ## Diagnosis
Formal diagnostic criteria for pycnodysostosis have not been established, however the radiographic features of acroosteolysis, osteosclerosis, and loss of the normal angle of the jaw are almost pathognomonic.
Pycnodysostosis
Short-limbed short stature in all individuals (prenatal onset in ~30%)
Brach... | [
"NM Appelman-Dijkstra, SE Papapoulos. From disease to treatment: from rare skeletal disorders to treatments for osteoporosis.. Endocrine. 2016;52:414-26",
"A Arman, A Bereket, A Coker, P Özlem, S Kiper, T Güran, B Özkan, Z Atay, T Akçay, B Haliloglu, K Boduroglu, Y Alanay, S. Turan. Cathepsin K analysis in a pych... | 5/11/2020 | 6/4/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
rab18-def | rab18-def | [
"Martsolf Syndrome",
"Warburg Micro Syndrome",
"Rab3 GTPase-activating protein catalytic subunit",
"Rab3 GTPase-activating protein non-catalytic subunit",
"Ras-related protein Rab-18",
"TBC1 domain family member 20",
"RAB18",
"RAB3GAP1",
"RAB3GAP2",
"TBC1D20",
"RAB18 Deficiency"
] | RAB18 Deficiency | Mark Handley, Eamonn Sheridan | Summary RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically de... | Warburg micro syndrome
Martsolf syndrome
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Warburg micro syndrome
• Martsolf syndrome
## Diagnosis
RAB18 deficiency
Note: Findings indicated with an * are the basis of the diagnosis when molecular genetic testing either has not... | [
"GM Abdel-Salam, NA Hassan, HF Kayed, IA Aligianis. Phenotypic variability in Micro syndrome: report of new cases.. Genet Couns. 2007;18:423-35",
"IA Aligianis, CA Johnson, P Gissen, D Chen, D Hampshire, K Hoffmann, EN Maina, NV Morgan, L Tee, J Morton, JR Ainsworth, D Horn, E Rosser, TR Cole, I Stolte-Dijkstra, ... | 4/1/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
rapid-odp | rapid-odp | [
"Alternating Hemiplegia of Childhood (AHC)",
"Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss (CAPOS) Syndrome",
"Rapid-Onset Dystonia-Parkinsonism (RDP)",
"Relapsing Encephalopathy with Cerebellar Ataxia (RECA) / Fever-Induced Paroxysmal Weakness and Encephalopathy (FIP... | Allison Brashear, Kathleen J Sweadner, Ihtsham Haq, Eleonora Napoli, Laurie Ozelius | Summary AHC is characterized by onset prior to age 18 months of paroxysmal hemiplegic episodes, predominately involving the limbs and/or the whole body, lasting from minutes to hours to days (and sometimes weeks) with remission only during sleep, only to resume after awakening. Although paroxysmal episodic neurologic d... | Alternating hemiplegia of childhood (AHC)
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS) syndrome
Relapsing encephalopathy with cerebellar ataxia (RECA) / fever-induced paroxysmal weakness and encephalopathy (FIPWE)
Rapid-onset dystonia-parkinsonism (RDP)
For synonyms and... | [] | 7/2/2008 | 5/12/2024 | 13/9/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
rasa1-rel-dis | rasa1-rel-dis | [
"CM-AVM Syndrome",
"CM-AVM Syndrome",
"RASA1 Parkes Weber Syndrome",
"Ephrin type-B receptor 4",
"Ras GTPase-activating protein 1",
"EPHB4",
"RASA1",
"Capillary Malformation-Arteriovenous Malformation Syndrome"
] | Capillary Malformation-Arteriovenous Malformation Syndrome | Pinar Bayrak-Toydemir, David A Stevenson | Summary Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. Some affected individuals also have associated arteriovenous malformations (AVMs) and/or arteriovenous fistu... | For synonyms and outdated names see
For other genetic causes of this phenotype see
## Diagnosis
Diagnostic criteria for capillary malformation-arteriovenous malformation (CM-AVM) syndrome have been proposed but not systematically evaluated [
CM-AVM syndrome
Multifocal, atypical pink-to-reddish brown, multiple, sma... | [] | 22/2/2011 | 12/9/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
rbs | rbs | [
"Roberts Syndrome",
"SC Phocomelia Syndrome",
"N-acetyltransferase ESCO2",
"ESCO2",
"ESCO2 Spectrum Disorder"
] | Hugo Vega, Miriam Gordillo, Ethylin Wang Jabs | Summary The diagnosis of | Roberts syndrome
SC phocomelia syndrome
For synonyms and outdated names see
• Roberts syndrome
• SC phocomelia syndrome
## Diagnosis
The diagnosis
Note: (1) Per American College of Medical Genetics and Genomics / Association for Molecular Pathology variant interpretation guidelines, the terms "pathogenic var... | [] | 18/4/2006 | 14/8/2025 | 14/4/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
rcdp | rcdp | [
"PEX7-Rhizomelic CDP",
"Rhizomelic Chondrodysplasia Punctata Type 1",
"Rhizomelic Chondrodysplasia Punctata Type 1",
"PEX7-Rhizomelic CDP",
"Peroxisomal targeting signal 2 receptor",
"PEX7",
"PEX7-Related Rhizomelic Chondrodysplasia Punctata"
] | Nancy E Braverman, Ricki Carroll, Wedad Fallatah, Mahim Jain | Summary The diagnosis of | ## Diagnosis
Congenital cataracts
Skeletal/radiographic findings
Rhizomelia (proximal shortening of the long bones)
Chondrodysplasia punctata (CDP). Punctate calcifications observed in radiographs in the epiphyseal cartilage at the knee, hip, elbow, and shoulder that can be more extensive, involving the hyoid bon... | [] | 16/11/2001 | 7/8/2025 | 7/2/2005 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
refsum | refsum | [
"Classic Refsum Disease",
"Classic Refsum Disease",
"Peroxisomal targeting signal 2 receptor",
"Phytanoyl-CoA dioxygenase, peroxisomal",
"PEX7",
"PHYH",
"Adult Refsum Disease"
] | Adult Refsum Disease | Hans R Waterham, Ronald JA Wanders, Bart P Leroy | Summary Adult Refsum disease (ARD) is associated with elevated plasma phytanic acid levels, late childhood-onset (or later) retinitis pigmentosa, and variable combinations of anosmia, polyneuropathy, deafness, ataxia, and ichthyosis. Onset of symptoms ranges from age seven months to older than age 50 years. Cardiac arr... | ## Diagnosis
Adult Refsum disease (ARD), also referred to as "classic Refsum disease," is a peroxisomal disorder. In the majority of individuals, it is caused by a deficiency of the peroxisomal enzyme phytanoyl-CoA hydroxylase due to biallelic pathogenic variants in
No consensus clinical diagnostic criteria for ARD h... | [] | 20/3/2006 | 30/9/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
rere-dis | rere-dis | [
"Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart (NEDBEH)",
"Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart (NEDBEH)",
"Arginine-glutamic acid dipeptide repeats protein",
"RERE",
"RERE-Related Disorders"
] | Daryl A Scott, Elliott H Sherr | Summary The diagnosis of | ## Diagnosis
No clinical diagnostic criteria have been published.
Behavioral issues, including attention-deficit/hyperactivity disorder and self-injurious behavior
Generalized hypotonia of infancy
Infant feeding difficulties
Eye/vision problems:
Structural eye defects (coloboma, optic nerve atrophy/hypoplasia, mi... | [
"B Fregeau, BJ Kim, A Hernández-García, VK Jordan, MT Cho, RE Schnur, KG Monaghan, J Juusola, JA Rosenfeld, E Bhoj, EH Zackai, S Sacharow, K Barañano, DGM Bosch, BBA de Vries, K Lindstrom, A Schroeder, P James, P Kulch, SR Lalani, MM van Haelst, KLI van Gassen, E van Binsbergen, AJ Barkovich, DA Scott, EH Sherr. De... | 21/3/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
retinoblastoma | retinoblastoma | [
"Retinoblastoma-associated protein",
"RB1",
"Retinoblastoma"
] | Retinoblastoma | Dietmar R Lohmann, Brenda L Gallie | Summary Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma w... | ## Diagnosis
Guidelines for diagnosis and care of children and families affected by retinoblastoma have been published [
Leukocoria (white pupil)
Strabismus
Change in eye appearance
Reduced visual acuity
Diagnosis of retinoblastoma, including unilateral (unifocal and multifocal) and bilateral involvement
Retinom... | [] | 18/7/2000 | 21/9/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
retinoschisis | retinoschisis | [
"X-Linked Retinoschisis",
"X-Linked Retinoschisis",
"Retinoschisin",
"RS1",
"X-Linked Congenital Retinoschisis"
] | X-Linked Congenital Retinoschisis | Paul A Sieving, Ian M MacDonald, Stephanie Hoang | Summary X-linked congenital retinoschisis (XLRS) is characterized by symmetric bilateral macular involvement with onset in the first decade of life, in some cases as early as age three months. Fundus examination shows areas of schisis (splitting of the nerve fiber layer of the retina) in the macula, sometimes giving th... | ## Diagnosis
X-linked congenital retinoschisis (XLRS)
Bilaterally reduced visual acuity, typically between 20/60 and 20/120
No presenting complaint of “night blindness” (i.e., vision difficulty in dim lighting)
Fundus examination revealing:
Areas of schisis (cavities and splitting through the deeper retinal laye... | [] | 24/10/2003 | 5/11/2020 | 18/6/2007 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
rett | rett | [
"MECP2 Classic Rett Syndrome",
"MECP2-Related Severe Neonatal Encephalopathy",
"Pyramidal Signs, Parkinsonism, and Macroorchidism (PPM-X) Syndrome",
"Variant Rett Syndrome",
"Methyl-CpG-binding protein 2",
"MECP2",
"MECP2 Disorders"
] | Simranpreet Kaur, John Christodoulou | Summary The spectrum of The diagnosis of a | Variant Rett syndrome
Mild learning disabilities
Pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome
Syndromic/nonsyndromic intellectual disability
For other genetic causes of these phenotypes see
Note: The allelic disorder
• Variant Rett syndrome
• Mild learning disabilities
• Pyramidal signs, p... | [] | 3/10/2001 | 19/9/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
rfc1-canvas | rfc1-canvas | [
"RFC1-CANVAS",
"RFC1-Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome",
"Replication factor C subunit 1",
"RFC1",
"RFC1 CANVAS / Spectrum Disorder"
] | Andrea Cortese, Mary M Reilly, Henry Houlden | Summary The phenotypic spectrum associated with biallelic The diagnosis of | The phenotypic spectrum associated with biallelic intronic AAGGG pentanucleotide expansions in
## Diagnosis
Formal diagnostic criteria for
Symptoms include unsteadiness (imbalance, dizziness), falls, clumsiness of hands.
Examination reveals progressive ataxia of gait and limb dysmetria.
Symptoms include unstea... | [
"D Aboud Syriani, D Wong, S Andani, CM De Gusmao, Y Mao, M Sanyoura, G Glotzer, PJ Lockhart, S Hassin-Baer, V Khurana, CM Gomez, S Perlman, S Das, BL Fogel. Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort.. Neurol Genet 2020;6",
"F Akçimen, JP Ross, V. Cynthia, CV Bourassa, C ... | 25/11/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
riboflavin-tn | riboflavin-tn | [
"Solute carrier family 52, riboflavin transporter, member 1",
"Solute carrier family 52, riboflavin transporter, member 2",
"Solute carrier family 52, riboflavin transporter, member 3",
"SLC52A1",
"SLC52A2",
"SLC52A3",
"Riboflavin Transporter Deficiency"
] | Riboflavin Transporter Deficiency | Elisa Cali, Natalia Dominik, Andreea Manole, Henry Houlden | Summary Riboflavin transporter deficiency (RTD), comprising RTD2 and RTD3 (caused by biallelic pathogenic variants in In the majority of affected individuals, the initial finding is sensorineural hearing loss, which is usually progressive and severe. The time between the onset of hearing loss and the development of oth... | Riboflavin transporter deficiency (RTD), comprising RTD2 and RTD3 (caused by biallelic pathogenic variants in
One case report (which requires additional confirmation) suggests that biallelic expression of pathogenic variants in
## Diagnosis
Very frequently affecting cranial nerves II (optic atrophy with bilateral sy... | [
"Q Abbas, SK Jafri, S Ishaque, AJ Rahman. Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation.. BMJ Case Rep. 2018;2018",
"F Amir, C Atzinger, K Massey, J Greinwald, LL Hunter, E Ulm, M Kettler. The clinical journey of patients with riboflavin transporter deficiency type 2.. J Child Neur... | 11/6/2015 | 8/4/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
rickets-xlh | rickets-xlh | [
"X-Linked Hypophosphatemic Rickets (XLHR)",
"X-Linked Vitamin D-Resistant Rickets",
"Hypophosphatemic Rickets, PHEX-Related",
"X-Linked Vitamin D-Resistant Rickets",
"X-Linked Hypophosphatemic Rickets (XLHR)",
"Hypophosphatemic Rickets, PHEX-Related",
"Phosphate-regulating neutral endopeptidase PHEX",
... | X-Linked Hypophosphatemia | Michaël R Laurent, Pol Harvengt, Geert R Mortier, Detlef Böckenhauer | Summary The phenotypic spectrum of X-linked hypophosphatemia (XLH) ranges from isolated hypophosphatemia to severe lower extremity bowing and/or craniosynostosis, usually involving the sagittal suture with consequent scaphocephaly. XLH typically manifests in the first two years of life with lower extremity bowing due t... | ## Diagnosis
For the purposes of this
X-linked hypophosphatemia (XLH)
Clinical signs of rickets resistant to treatment with regular vitamin D
Progressive lower extremity bowing
Decrease in height velocity after the child starts ambulating
Epiphyseal swelling
Harrison groove (a horizontal channel at the lower e... | [] | 9/2/2012 | 14/12/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
ritscher-schinzel | ritscher-schinzel | [
"3C Syndrome",
"Cranio-Cerebello-Cardiac Dysplasia",
"3C Syndrome",
"Cranio-Cerebello-Cardiac Dysplasia",
"Coiled-coil domain-containing protein 22",
"WASH complex subunit 5",
"CCDC22",
"WASHC5",
"Ritscher-Schinzel Syndrome"
] | Ritscher-Schinzel Syndrome | Alison M Elliott, Albert Chudley | Summary Ritscher-Schinzel syndrome (RSS) is a clinically recognizable condition that includes the cardinal findings of craniofacial features, cerebellar defects, and cardiovascular malformations resulting in the alternate diagnostic name of 3C syndrome. Dysmorphic facial features may include brachycephaly, hypotonic fa... | ## Diagnosis
Consensus clinical diagnostic criteria for Ritscher-Schinzel syndrome (RSS) have not been established.
Congenital heart malformation(s) other than patent ductus arteriosus alone
Dandy-Walker malformation, cerebellar vermis hypoplasia, or enlarged cisterna magna
Cleft palate OR ocular coloboma OR four o... | [] | 23/1/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
rnu4atac-dis | rnu4atac-dis | [
"RNU4ATAC Spectrum Disorder",
"RNU4ATAC Spectrum Disorder",
"Microcephalic Osteodysplastic Primordial Dwarfism Type I/III (MOPDI) / Taybi-Linder Syndrome",
"Roifman Syndrome",
"Lowry-Wood Syndrome",
"N/A (non-coding RNA)",
"RNU4ATAC",
"RNU4atac-opathy"
] | RNU4atac-opathy | Angela Duker, Danita Velasco, Nic Robertson, Andrew Jackson, Magee DeFelice, Michael B Bober | Summary RNU4atac-opathy encompasses the phenotypic spectrum of biallelic The diagnosis of RNU4atac-opathy is established in a proband with suggestive findings and biallelic pathogenic (or likely pathogenic) variants in RNU4atac-opathy is inherited in an autosomal recessive manner. If both parents are known to be hetero... | With the current widespread use of multigene panels and comprehensive genomic testing, it has become apparent that the phenotypic spectrum of biallelic
The need to evaluate an individual found to have
The importance of counseling families that the finding of biallelic
RNU4atac-opathy: Phenotypic Spectrum Associated ... | [] | 16/2/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
rob-ad | rob-ad | [
"Fetal Face Syndrome",
"Fetal Face Syndrome",
"Protein Wnt-5a",
"Segment polarity protein dishevelled homolog DVL-1",
"Segment polarity protein dishevelled homolog DVL-3",
"DVL1",
"DVL3",
"WNT5A",
"Autosomal Dominant Robinow Syndrome"
] | Autosomal Dominant Robinow Syndrome | Maian Roifman, Han Brunner, Jamie Lohr, Juliana Mazzeu, David Chitayat | Summary Autosomal dominant Robinow syndrome (ADRS) is characterized by skeletal findings (short stature, mesomelic limb shortening predominantly of the upper limbs, and brachydactyly), genital abnormalities (in males: micropenis / webbed penis, hypoplastic scrotum, cryptorchidism; in females: hypoplastic clitoris and l... | ## Diagnosis
Autosomal dominant Robinow syndrome (ADRS)
Short stature
Mesomelic limb shortening predominantly affecting the upper limbs
Brachydactyly
In males: micropenis / webbed penis, hypoplastic scrotum, and cryptorchidism
In females: hypoplastic clitoris and labia majora
Dysmorphic facial features res... | [
"J Al-Ata, M Paquet, AS Teebi. Congenital heart disease in Robinow syndrome.. Am J Med Genet. 1998;77:332-3",
"S Beiraghi, V Leon-Salazar, BE Larson, MT John, ML Cunningham, A Petryk, JL Lohr. Craniofacial and intraoral phenotype of Robinow syndrome forms.. Clin Genet. 2011;80:15-24",
"KJ Bunn, P Daniel, HS Ros... | 8/1/2015 | 9/8/2018 | 3/10/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
rob | rob | [
"Fetal Face Syndrome",
"Fetal Face Syndrome",
"Tyrosine-protein kinase transmembrane receptor ROR2",
"ROR2",
"ROR2-Related Robinow Syndrome"
] | Carlos A Bacino | Summary The diagnosis of | ## Diagnosis
Macrocephaly
Dysmorphic facial features including: broad prominent forehead, marked ocular hypertelorism, prominent eyes with apparent exophthalmos resulting from deficiency of the lower eyelid (giving the eyes a more prominent appearance), midface hypoplasia, short upturned nose with depressed nasal bri... | [
"AR Afzal, S Jeffery. One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.. Hum Mutat. 2003;22:1-11",
"AR Afzal, A Rajab, CD Fenske, M Oldridge, N Elanko, E Ternes-Pereira, B Tuysuz, VA Murday, MA Patton, AO Wilkie, S Jeffery. Recessive Robi... | 28/7/2005 | 26/7/2018 | 12/9/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
rotor | rotor | [
"Rotor-Type Hyperbilirubinemia",
"Rotor-Type Hyperbilirubinemia",
"Solute carrier organic anion transporter family member 1B1",
"Solute carrier organic anion transporter family member 1B3",
"SLCO1B1",
"SLCO1B3",
"Rotor Syndrome"
] | Rotor Syndrome | Milan Jirsa, AS Knisely, Alfred Schinkel, Stanislav Kmoch | Summary Rotor syndrome is characterized by mild conjugated and unconjugated hyperbilirubinemia that usually begins shortly after birth or in childhood. Jaundice may be intermittent. Conjunctival icterus may be the only clinical manifestation. The diagnosis of Rotor syndrome is established in a proband with isolated, pr... | ## Diagnosis
Rotor syndrome
Mild jaundice (may be intermittent)
Conjunctival icterus (in some affected individuals)
Otherwise normal physical examination
Conjugated hyperbilirubinemia with serum total bilirubin concentration usually between 2 and 5 mg/dL but possibly higher. Conjugated bilirubin usually exceeds ... | [] | 13/12/2012 | 27/2/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
rp-overview | rp-overview | [
"Adhesion G protein-coupled receptor A3",
"ADP-ribosylation factor-like protein 2-binding protein",
"ADP-ribosylation factor-like protein 3",
"ADP-ribosylation factor-like protein 6",
"BBSome complex member BBS1",
"BBSome complex member BBS2",
"Bestrophin-1",
"Carbonic anhydrase 4",
"CCA tRNA nucleo... | Nonsyndromic Retinitis Pigmentosa Overview | Abigail T Fahim, Stephen P Daiger, Richard G Weleber | Summary The purpose of this overview is to: Describe the Review the Provide an Provide a brief summary of Inform | ## Clinical Characteristics of Nonsyndromic Retinitis Pigmentosa
Retinitis pigmentosa (RP) refers to a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) of the retina lead to progressive visual loss. RP is classified as nonsyndromic, or "simple" (not affecting other organs or ... | [] | 4/8/2000 | 19/1/2017 | 6/4/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
rpe65-lca | rpe65-lca | [
"RPE65-Related LCA/EOSRD",
"RPE65-Related LCA / EOSRD",
"Retinoid isomerohydrolase",
"RPE65",
"RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy"
] | Daniel L Chao, Amanda Burr, Mark Pennesi | Summary The diagnosis of Subretinal gene augmentation, an FDA-approved therapy, compensates for loss-of-function | ## Diagnosis
Symptomatic onset between birth and age five years
Roving eye movements or nystagmus
Poor pupillary light responses in some
Profound nyctalopia
Oculodigital sign (i.e., poking, rubbing or pressing on the eye in order to stimulate phosphenes for visual perception). Once considered pathognomonic for L... | [
"L Al-Gazali, BR Ali. Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).. Hum Mutat. 2010;31:505-20",
"GDN Astuti, M Bertelsen, MN Preising, M Ajmal, B Lorenz, SMH Faradz, R Qamar, RWJ Collin, T Rosenberg, FPM Cremers. Comprehensive genotyping reveals RPE65 as th... | 14/11/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
rrm2b-mtddepl | rrm2b-mtddepl | [
"RRM2B Autosomal Recessive Progressive External Ophthalmoplegia (arPEO)",
"RRM2B Encephalomyopathic Mitochondrial DNA Maintenance Defects (MDMD)",
"RRM2B Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE)",
"RRM2B Autosomal Dominant Progressive External Ophthalmoplegia (adPEO)",
"Ribonucleoside-diph... | Albert Z Lim, Robert McFarland, Robert W Taylor, Gráinne S Gorman | Summary Four phenotypes comprise the To date, 78 individuals from 52 families with a molecularly confirmed The diagnosis of an With the exception of autosomal dominant progressive external ophthalmoplegia, Once the | COX = cytochrome
No true epidemiologic study is available to assess the exact prevalence for each of these disorders.
Previously referred to as mtDNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) or
Previously referred to as mtDNA depletion syndrome 8B
## Diagnosis
Note: While muscle biops... | [
"B Acham-Roschitz, B Plecko, F Lindbichler, R Bittner, CJ Mache, W Sperl, JA Mayr. A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.. Mol Genet Metab. 2009;98:300-4",
"B Bornstein, E Area, KM Flanigan, J Ganesh, P Jayakar, KJ Swoboda, J C... | 17/4/2014 | 24/6/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
rss | rss | [
"Russell-Silver Syndrome",
"Russell-Silver Syndrome",
"Cyclin-dependent kinase inhibitor 1C",
"High mobility group protein HMGI-C",
"Insulin-like growth factor 2",
"Zinc finger protein PLAG1",
"CDKN1C",
"H19",
"HMGA2",
"IGF2",
"PLAG1",
"Silver-Russell Syndrome"
] | Silver-Russell Syndrome | Howard M Saal, Madeleine D Harbison, Irene Netchine | Summary Silver-Russell Syndrome (SRS) is typically characterized by gestational growth restriction resulting in affected individuals being born small for gestational age, with relative macrocephaly at birth (head circumference ≥1.5 standard deviations [SD] above birth weight and/or length), prominent forehead with fron... | ## Diagnosis
Consensus clinical diagnostic criteria for Silver-Russell syndrome (SRS) have been published [
SRS
Small for gestational age (birth weight and/or length two or more standard deviations [SD] below the mean for gestational age)
Postnatal growth failure (length/height two or more SD below the mean for age... | [] | 2/11/2002 | 9/5/2024 | 9/1/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
rsts | rsts | [
"Broad Thumb-Hallux Syndrome",
"Broad Thumbs-Hallux Syndrome",
"CREB-binding protein",
"Histone acetyltransferase p300",
"CREBBP",
"EP300",
"Rubinstein-Taybi Syndrome"
] | Rubinstein-Taybi Syndrome | Cathy A Stevens | Summary Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. Characteristic craniofacial features include downslanted palpebral fissures, low-hanging columella, high palate, grimaci... | ## Diagnosis
Rubinstein-Taybi syndrome (RSTS)
Craniofacial appearance (See
Downslanted palpebral fissures
Convex nasal ridge with low-hanging columella
High palate
Grimacing smile
Talon cusps (an accessory cusp-like structure on the lingual side of the tooth), usually occurring on the maxillary incisors of the... | [] | 30/8/2002 | 9/11/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
rtps | rtps | [
"Rhabdoid Predisposition Syndrome",
"RTPS",
"Rhabdoid Predisposition Syndrome",
"SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4",
"SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1",
"SMARCA4",
"SMARCB1",
"Rhabd... | Rhabdoid Tumor Predisposition Syndrome | Karolina Nemes, Susanne Bens, Franck Bourdeaut, Pascal Johann, Uwe Kordes, Reiner Siebert, Michael C Frühwald | Summary Rhabdoid tumor predisposition syndrome (RTPS) is characterized by a markedly increased risk for the development of rhabdoid tumors – rare and highly aggressive malignant tumors occurring predominantly in infants and children younger than age three years. Malignant rhabdoid tumors can occur in almost any anatomi... | ## Diagnosis
Rhabdoid tumor predisposition syndrome (RTPS)
Congenital presentation (i.e., prenatal diagnosis or symptoms within the first 28 days of life)
Early-onset rhabdoid tumor (age <12 months)
Advanced stage of rhabdoid tumor at diagnosis (e.g., >M
Synchronous rhabdoid tumors (>1 primary rhabdoid tumor)
Fam... | [
"A. Agaimy. SWI/SNF complex-deficient soft tissue neoplasms: a pattern-based approach to diagnosis and differential diagnosis.. Surg Pathol Clin. 2019;12:149-63",
"AC Ammerlaan, A Ararou, MP Houben, F Baas, CC Tijssen, JL Teepen, P Wesseling, TJ Hulsebos. Long-term survival and transmission of INI1-mutation via n... | 7/12/2017 | 12/5/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
rts | rts | [
"Anaphase-promoting complex subunit 1",
"ATP-dependent DNA helicase Q4",
"ANAPC1",
"RECQL4",
"Rothmund-Thomson Syndrome"
] | Rothmund-Thomson Syndrome | Lisa L Wang, Sharon E Plon | Summary Rothmund-Thomson syndrome (RTS) is characterized by a rash that progresses to poikiloderma; sparse hair, eyelashes, and/or eyebrows; small size; skeletal and dental abnormalities; juvenile cataracts; and an increased risk for cancer, especially osteosarcoma. A variety of benign and malignant hematologic abnorma... | ## Diagnosis
Rothmund-Thomson syndrome (RTS)
Starts in infancy, usually between ages three and six months
Erythema on the cheeks and face
Spreads to involve the extensor surfaces of the extremities
Typically sparing of the trunk and abdomen; possible involvement of the buttocks
Gradually develops over a perio... | [
"NF Ajeawung, TM Nguyen, L Lu, TJ Kucharski, J Rousseau, S Molidperee, J Atienza, I Gamache, W Jin, SE Plon, BH Lee, JG Teodoro, LL Wang, PM Campeau. Mutations in ANAPC1, encoding a scaffold subunit of the anaphase promoting complex, cause Rothmund-Thomson syndrome Type 1.. Am J Hum Genet. 2019;105:625-30",
"ML B... | 6/10/1999 | 3/1/2019 | 4/6/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
runx1 | runx1 | [
"Familial Platelet Disorder / Acute Myeloid Leukemia (FPD/AML)",
"RUNX1 Familial Platelet Disorder (FPD)",
"Familial Platelet Disorder / Acute Myeloid Leukemia (FPD/AML)",
"RUNX1 Familial Platelet Disorder (FPD)",
"Runt-related transcription factor 1",
"RUNX1",
"RUNX1 Familial Platelet Disorder with Ass... | Natalie Deuitch, Elizabeth Broadbridge, Lea Cunningham, Paul Liu | Summary The diagnosis of | ## Diagnosis
Abnormal bruising or bleeding (90%)
Bruising without known trauma
Excessive bleeding following surgery or trauma
Bleeding from the gums after brushing or flossing teeth or prolonged bleeding following dental cleaning or dental extractions
Obstetric and gynecologic manifestations may include menorrha... | [] | 4/3/2021 | 11/1/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
rvcl | rvcl | [
"Cerebroretinal Vasculopathy (CRV)",
"Hereditary Endotheliopathy, Retinopathy, Nephropathy, and Stroke (HERNS)",
"Hereditary Systemic Angiopathy (HSA)",
"Hereditary Vascular Retinopathy (HVR)",
"Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL)",
"RVCL-S",
"RVCL-S",
"Retinal Vasculopathy with C... | Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations | Irene de Boer, Nadine Pelzer, Gisela Terwindt | Summary The diagnosis of RVCL-S is established in a proband with suggestive findings and a heterozygous pathogenic variant in RVCL-S is inherited in an autosomal dominant manner. Most individuals diagnosed with RVCL-S have an affected parent. However, disease onset and severity vary considerably even within the same fa... | ## Diagnosis
There are no consensus clinical diagnostic criteria for retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S).
RVCL-S
Vascular retinopathy typically manifesting as decreased visual acuity and/or visual field defects
Focal and/or global brain dysfunction and brain... | [
"C Carra-Dalliere, X Ayrignac, C Prieto-Morin, P Girard, E Tournier-Lasserve, P. Labauge. TREX1 mutation in leukodystrophy with calcifications and persistent gadolinium-enhancement.. Eur Neurol. 2017;77:113-4",
"AC Cohn, K Kotschet, A Veitch, MB Delatycki, MF McCombe. Novel ophthalmological features in hereditary... | 19/9/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
rws | rws | [
"Calmodulin",
"Calmodulin-3",
"Caveolin-3",
"Inward rectifier potassium channel 2",
"Potassium voltage-gated channel subfamily E member 1",
"Potassium voltage-gated channel subfamily E member 2",
"Potassium voltage-gated channel subfamily KQT member 1",
"Sodium channel protein type 5 subunit alpha",
... | Long QT Syndrome Overview | Alexander J Groffen, Hennie Bikker, Imke Christiaans | Summary The purpose of this overview is to: Briefly describe the Review the Review the Provide an Review Inform | ## Clinical Characteristics of Long QT Syndrome
Long QT syndrome (LQTS) is characterized by QT prolongation and T wave abnormalities on EKG. LQTS predisposes individuals to a significant risk of life-threatening arrhythmic events, especially in young individuals. Molecular genetic testing identifies a genetic cause i... | [] | 20/2/2003 | 21/3/2024 | 4/8/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
salih-myo | salih-myo | [
"Titin",
"TTN",
"Salih Myopathy"
] | Salih Myopathy | Peter Hackman, Marco Savarese, Maria Francesca Di Feo, Bjarne Udd, Mustafa A Salih | Summary Salih myopathy is characterized by muscle weakness (manifesting during the neonatal period or in very early infancy) and delayed motor development; children acquire independent walking between ages 20 months and four years. In the first decade of life, global motor performance is stable or tends to improve. Mod... | ## Diagnosis
No consensus clinical diagnostic criteria for Salih myopathy have been published.
Salih myopathy
Muscle weakness manifesting during the neonatal period or in very early infancy
Delayed motor milestones but normal cognitive development
Muscle weakness of limb-girdle distribution, myopathic face, vari... | [] | 12/1/2012 | 3/4/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
samd9l-ap | samd9l-ap | [
"SAMD9L-ATXPC Syndrome",
"SAMD9L-ATXPC Syndrome",
"Sterile alpha motif domain-containing protein 9-like",
"SAMD9L",
"SAMD9L Ataxia-Pancytopenia Syndrome"
] | Wendy H Raskind, Dong-Hui Chen, Thomas Bird | Summary The diagnosis of | ## Diagnosis
Formal clinical diagnostic criteria for
Cerebellar ataxia
Variable hematopoietic cytopenias affecting one or more lineages (e.g., anemia, neutropenia, thrombocytopenia)
Myeloid leukemia or myelodysplasia with partial or complete monosomy 7
The diagnosis of
Note: Identification of a heterozygous
Mo... | [] | 1/6/2017 | 4/2/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
sandhoff | sandhoff | [
"Type II GM2 Gangliosidosis",
"Type II GM2 Gangliosidosis",
"Acute Infantile Sandhoff Disease",
"Subacute Juvenile Sandhoff Disease",
"Late-Onset Sandhoff Disease",
"Beta-hexosaminidase subunit beta",
"HEXB",
"Sandhoff Disease"
] | Sandhoff Disease | Changrui Xiao, Cynthia Tifft, Camilo Toro | Summary Sandhoff disease comprises a phenotypic continuum encompassing acute infantile, subacute juvenile, and late-onset disease. Although classification into these phenotypes is somewhat arbitrary, it is helpful in understanding the variation observed in the timing of disease onset, presenting manifestations, rate of... | Acute infantile Sandhoff disease
Subacute juvenile Sandhoff disease
Late-onset Sandhoff disease
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Acute infantile Sandhoff disease
• Subacute juvenile Sandhoff disease
• Late-onset Sandhoff disease
## Diagnosis
No consensus cl... | [] | 14/4/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
satb2-dis | satb2-dis | [
"2q32 Deletion Syndrome",
"2q33.1 Microdeletion Syndrome",
"Glass Syndrome",
"2q32 Deletion Syndrome",
"2q33.1 Microdeletion Syndrome",
"Glass Syndrome",
"DNA-binding protein SATB2",
"SATB2",
"SATB2-Associated Syndrome"
] | Yuri A Zarate, Katherine Bosanko, Jennifer Fish | Summary The diagnosis of SAS is established in a proband with suggestive findings and identification of one of the following by molecular genetic testing: a heterozygous intragenic SAS is an autosomal dominant disorder. Almost all probands with SAS reported to date have the disorder as the result of a | ## Diagnosis
No formal clinical diagnostic criteria have been established for
SAS
Typically moderate-to-profound developmental delay or intellectual disability, including severe speech delay and, in some, absence of speech; however, individuals with milder developmental delay affecting predominantly speech have be... | [] | 12/10/2017 | 20/6/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
saul-wilson | saul-wilson | [
"Microcephalic Osteodysplastic Dysplasia",
"Microcephalic Osteodysplastic Dysplasia",
"Conserved oligomeric Golgi complex subunit 4",
"COG4",
"Saul-Wilson Syndrome"
] | Saul-Wilson Syndrome | Carlos Ferreira | Summary Saul-Wilson syndrome (SWS) is a skeletal dysplasia characterized by profound short stature, distinctive craniofacial features, short distal phalanges of fingers and toes, and often clubfoot. Early development (primarily speech and motor) is delayed; cognition is normal. Other findings can include hearing loss (... | ## Diagnosis
Formal diagnostic criteria for Saul-Wilson syndrome have not been established.
Saul-Wilson syndrome
Skeletal
Profound short stature (typically of prenatal onset)
Clubfoot
Short distal phalanges of fingers and toes (See
Distinctive craniofacial features (See
Progeroid facial appearance (more strik... | [
"Y Chinen, T Kaneshi, T Kamiya, K Hata, G Nishimura, T Kaname. Progressive hip joint subluxation in Saul-Wilson syndrome.. Am J Med Genet A. 2015;167A:2834-8",
"CR Ferreira, ZJ Xia, A Clément, DA Parry, M Davids, F Taylan, P Sharma, CT Turgeon, B Blanco-Sánchez, BG Ng, CV Logan, LA Wolfe, BD Solomon, MT Cho, G Do... | 20/2/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
sca-io | sca-io | [
"IOSCA",
"Mitochondrial DNA Depletion Syndrome 7",
"IOSCA",
"Mitochondrial DNA Depletion Syndrome 7",
"Twinkle mtDNA helicase",
"TWNK",
"Infantile-Onset Spinocerebellar Ataxia"
] | Infantile-Onset Spinocerebellar Ataxia – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Tuula Lönnqvist | Summary Infantile-onset spinocerebellar ataxia (IOSCA) is a severe, progressive neurodegenerative disorder characterized by normal development until age one year, followed by onset of ataxia, muscle hypotonia, loss of deep-tendon reflexes, and athetosis. Ophthalmoplegia and sensorineural deafness develop by age seven ... | ## Diagnosis
Infantile-onset spinocerebellar ataxia (IOSCA) is a clinical spectrum that was originally described in individuals of Finnish descent; however, the phenotype has been expanded by the identification of affected individuals of non-Finnish descent whose features may deviate from the originally described "cla... | [] | 27/1/2009 | 19/4/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
sca1 | sca1 | [
"SCA1",
"SCA1",
"Ataxin-1",
"ATXN1",
"Spinocerebellar Ataxia Type 1"
] | Spinocerebellar Ataxia Type 1 | Puneet Opal, Tetsuo Ashizawa | Summary Spinocerebellar ataxia type 1 (SCA1) is characterized by progressive cerebellar ataxia, dysarthria, and eventual deterioration of bulbar functions. Early in the disease, affected individuals may have gait disturbance, slurred speech, difficulty with balance, brisk deep tendon reflexes, hypermetric saccades, nys... | ## Diagnosis
The phenotypic manifestations of spinocerebellar ataxia type 1 (SCA1) are not specific, and no formal clinical diagnostic criteria exist.
SCA1
Progressive cerebellar ataxia
Dysarthria
Eventual deterioration of bulbar functions
The diagnosis of SCA1
39-44 CAG repeat alleles must be uninterrup... | [
"T Ashizawa, KP Figueroa, SL Perlman, CM Gomez, GR Wilmot, JD Schmahmann, SH Ying, TA Zesiewicz, HL Paulson, VG Shakkottai, KO Bushara, SH Kuo, MD Geschwind, G Xia, P Mazzoni, JP Krischer, D Cuthbertson, AR Holbert, JH Ferguson, SM Pulst, SH Subramony. Clinical characteristics of patients with spinocerebellar ataxi... | 1/10/1998 | 2/2/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
sca10 | sca10 | [
"SCA10",
"SCA10",
"Ataxin-10",
"ATXN10",
"Spinocerebellar Ataxia Type 10"
] | Spinocerebellar Ataxia Type 10 | Tohru Matsuura, Tetsuo Ashizawa | Summary Spinocerebellar ataxia type 10 (SCA10) is characterized by slowly progressive cerebellar ataxia that usually starts as poor balance and unsteady gait, followed by upper-limb ataxia, scanning dysarthria, and dysphagia. Abnormal tracking eye movements are common. Recurrent seizures after the onset of gait ataxia ... | ## Diagnosis
Spinocerebellar ataxia type 10 (SCA10)
Slowly progressive cerebellar ataxia starting as poor balance and unsteady gait
Scanning dysarthria, dysphagia, and upper-limb ataxia following the gait ataxia
Family history consistent with autosomal dominant inheritance and Native American or East Asian ancestry... | [] | 23/4/2002 | 19/9/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
sca11 | sca11 | [
"SCA11",
"SCA11",
"Tau-tubulin kinase 2",
"TTBK2",
"Spinocerebellar Ataxia Type 11"
] | Spinocerebellar Ataxia Type 11 | Zhongbo Chen, Arina Puzriakova, Henry Houlden | Summary Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia and abnormal eye signs (jerky pursuit, horizontal and vertical nystagmus). Pyramidal features are seen on occasion. Peripheral neuropathy and dystonia are rare. Six families have been reported to date, one each from the UK,... | ## Diagnosis
Spinocerebellar ataxia type 11 (SCA11)
Progressive cerebellar ataxia
Abnormal eye signs (jerky pursuit, horizontal and vertical nystagmus)
Dysarthria
Pyramidal features (mild-to-moderate lower-extremity hyperreflexia; in very rare cases, a positive Babinski sign or other pyramidal features)
Swallowin... | [
"I Alesutan, M Sopjani, M Dërmaku-Sopjani, C Munoz, J Voelkl, F Lang. Upregulation of Na-coupled glucose transporter SGLT1 by Tau tubulin kinase 2.. Cell Physiol Biochem. 2012;30:458-65",
"P Bauer, G Stevanin, C Beetz, M Synofzik, T Schmitz-Hübsch, U Wüllner, E Berthier, E Ollagnon-Roman, O Riess, S Forlani, E Mu... | 22/7/2008 | 31/10/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
sca12 | sca12 | [
"SCA12",
"SCA12",
"SCA 12",
"Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform",
"PPP2R2B",
"Spinocerebellar Ataxia Type 12"
] | Spinocerebellar Ataxia Type 12 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Russell L Margolis, Susan E Holmes, Achal K Srivastava, Mitali Mukherji, KK Sinha | Summary Spinocerebellar ataxia type 12 (SCA12) is characterized by onset of action tremor of the upper extremities in the fourth decade, slowly progressing to include ataxia and other cerebellar and cortical signs. Given the small number of individuals known to have SCA12, it is possible that other clinical manifestat... | ## Diagnosis
Clinical information on spinocerebellar ataxia type 12 (SCA12) derives from studies of the index pedigree, an American family of German descent [
The diagnosis of SCA12 should be considered in the following:
Individuals of Indian descent who:
Develop an action tremor of the upper extremities in mid-lif... | [
"S Bahl, K Virdi, U Mittal, MP Sachdeva, AK Kalla, SE Holmes, E O'Hearn, RL Margolis, S Jain, AK Srivastava, M Mukerji. Evidence of a common founder for SCA12 in the Indian population.. Ann Hum Genet 2005;69:528-34",
"A Brusco, C Gellera, C Cagnoli, A Saluto, A Castucci, C Michielotto, V Fetoni, C Mariotti, N Mig... | 1/10/2004 | 17/11/2011 | 12/3/2007 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
sca13 | sca13 | [
"SCA13",
"SCA13",
"KCNC3 Congenital-Onset Non-Progressive Cerebellar Ataxia",
"KCNC3 Childhood-Onset Progressive Cerebellar Ataxia with Delayed Milestones",
"KCNC3 Adult-Onset Progressive Cerebellar Ataxia",
"Voltage-gated potassium channel KCNC3",
"KCNC3",
"Spinocerebellar Ataxia Type 13"
] | Spinocerebellar Ataxia Type 13 | Michael F Waters | Summary Spinocerebellar ataxia type 13 (SCA13) is a phenotypic spectrum that includes both non-progressive infantile-onset ataxia and progressive childhood-onset and adult-onset cerebellar ataxia. Three phenotypes are seen: Cerebellar hypoplasia with non-progressive infantile-onset limb, truncal, and gait ataxia with m... | Congenital-onset non-progressive cerebellar ataxia
Childhood-onset progressive cerebellar ataxia w/delayed milestones
Adult-onset progressive cerebellar ataxia
For other genetic causes of these phenotypes, see
• Congenital-onset non-progressive cerebellar ataxia
• Childhood-onset progressive cerebellar ataxia w/de... | [
"K Bürk, DA Sival. Scales for the clinical evaluation of cerebellar disorders.. Handb Clin Neurol. 2018;154:329-39",
"K Bürk, A Strzelczyk, PS Reif, KP Figueroa, SM Pulst. Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13).. Int J Neurosci 2013;123:278-282",
"M Coutelier, G C... | 9/11/2006 | 4/6/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
sca14 | sca14 | [
"SCA14",
"SCA14",
"Protein kinase C gamma type",
"PRKCG",
"Spinocerebellar Ataxia Type 14"
] | Spinocerebellar Ataxia Type 14 | Dong-Hui Chen, Thomas D Bird, Wendy H Raskind | Summary Spinocerebellar ataxia type 14 (SCA14) is characterized by slowly progressive cerebellar ataxia, dysarthria, and nystagmus. Axial myoclonus, cognitive impairment, tremor, and sensory loss may also be observed. Parkinsonian features including rigidity and tremor have been described in some families. Findings see... | ## Diagnosis
Formal diagnostic criteria for spinocerebellar ataxia type 14 have not been established.
Spinocerebellar ataxia type 14 (SCA14)
Slowly progressive cerebellar ataxia
Myoclonus, dystonia, rigidity, and tremor
Sensory loss
Dysarthria
Nystagmus
Cognitive impairment (some individuals)
Depression (some ... | [
"N Adachi, T Kobayashi, H Takahashi, T Kawasaki, Y Shirai, T Ueyama, T Matsuda, T Seki, N Sakai, N Saito. Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis.. J Biol Chem. 2008;283:19854-63",
"H Asai, M Hirano, K Shimada, T Kiriyama, Y... | 28/1/2005 | 20/2/2020 | 21/12/2005 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
sca15 | sca15 | [
"SCA15",
"SCA15",
"SCA 15",
"Inositol 1,4,5-trisphosphate receptor type 1",
"ITPR1",
"Spinocerebellar Ataxia Type 15"
] | Spinocerebellar Ataxia Type 15 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Elsdon Storey | Summary Spinocerebellar ataxia type 15 (SCA15) is characterized by slowly progressive gait and limb ataxia, often in combination with ataxic dysarthria, titubation, upper limb postural tremor, mild hyperreflexia, gaze-evoked nystagmus, and impaired vestibuloocular reflex gain. Onset is between ages seven and 72 years,... | ## Diagnosis
The diagnosis of spinocerebellar ataxia type 15 (SCA15) should be considered in individuals with the following findings:
Very slowly progressive ataxia (e.g., still independently ambulant after 20-30 years of symptoms)
No other neurologic signs beyond postural and kinetic tremor (which are common and ma... | [] | 30/5/2006 | 12/6/2014 | 21/4/2011 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
sca17 | sca17 | [
"Huntington Disease-Like 4",
"SCA17",
"SCA17",
"Huntington Disease-Like 4",
"TATA-box-binding protein",
"TBP",
"Spinocerebellar Ataxia Type 17"
] | Spinocerebellar Ataxia Type 17 | Yasuko Toyoshima, Osamu Onodera, Mitsunori Yamada, Shoji Tsuji, Hitoshi Takahashi | Summary Spinocerebellar ataxia type 17 (SCA17) is characterized by ataxia, dementia, and involuntary movements, including chorea and dystonia. Psychiatric symptoms, pyramidal signs, and rigidity are common. The age of onset ranges from three to 55 years. Individuals with full-penetrance alleles develop neurologic and/o... | ## Diagnosis
Spinocerebellar ataxia type 17 (SCA17)
Ataxia
Dementia
Involuntary movements – e.g., chorea and dystonia (blepharospasm, torticollis, writer's cramp, foot dystonia)
Psychiatric symptoms
The diagnosis of SCA17
The CAA CAG CAA interruption between (CAG)
Molecular genetic testing approaches can includ... | [
"A Alendar, B Euljkovic, D Savic, A Djarmati, M Keckarevic, A Ristic, N Dragasevic, V Kosic, S Romac. Spinocerebellar ataxia type 17 in the Yugoslav population.. Acta Neurol Scand 2004;109:185-7",
"A Alibardi, F Squitieri, F Fattapposta, P Missori, F Pierelli, C Trompetto, A Curra. Psychiatric onset and late chor... | 29/3/2005 | 12/9/2019 | 28/7/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
sca2 | sca2 | [
"SCA2",
"SCA 2",
"SCA2",
"Ataxin-2",
"ATXN2",
"Spinocerebellar Ataxia Type 2"
] | Spinocerebellar Ataxia Type 2 | Stefan M Pulst | Summary Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements, and in some individuals, ophthalmoparesis or parkinsonism. Pyramidal findings are present; deep tendon reflexes are brisk early on and absent later in the course. Age of onse... | ## Diagnosis
Spinocerebellar ataxia type 2 (SCA2)
Slowly progressive ataxia and dysarthria
Nystagmus and slow saccadic eye movements
Family history consistent with autosomal dominant inheritance
The diagnosis of SCA2
Note: Interruption of a CAG expanded allele by a CAA repeat does not mitigate the pathogenicity... | [] | 23/10/1998 | 14/2/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
sca20 | sca20 | [
"SCA20",
"SCA20",
"Spinocerebellar Ataxia Type 20"
] | Spinocerebellar Ataxia Type 20 | Elsdon Storey, RJM Gardner | Summary Spinocerebellar ataxia type 20 (SCA20) is characterized by a slowly progressive ataxia and dysarthria. Approximately two thirds of those affected also display palatal tremor ("myoclonus") and/or abnormal phonation clinically resembling spasmodic adductor dysphonia. Dysarthria, which may be abrupt in onset, prec... | ## Diagnosis
Spinocerebellar ataxia type 20 (SCA20)
Onset with dysarthria (rather than with gait ataxia) that may be abrupt in onset (seen in ~66%)
Palatal tremor (in ~66%)
Family history consistent with autosomal dominant inheritance
Additional findings may include the following:
Hypermetric horizontal saccades ... | [
"F Barbieri, MT Pellecchia, E Esposito, E Di Stasio, I Castaldo, F Santorelli, A Perretti, L Santoro, G De Michele. Adult-onset familial laryngeal abductor paralysis, cerebellar ataxia, and pure motor neuropathy.. Neurology 2001;56:1412-4",
"JG de Yebenes, A Vazquez, J Rabano, EV de Seijas, DG Urra, MC Obregon, M... | 27/2/2007 | 18/4/2019 | 6/1/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
sca28 | sca28 | [
"SCA28",
"SCA28",
"Mitochondrial inner membrane m-AAA protease component AFG3L2",
"AFG3L2",
"Spinocerebellar Ataxia Type 28"
] | Spinocerebellar Ataxia Type 28 | Alessandro Brussino, Alfredo Brusco, Alexandra Durr, Cecilia Mancini | Summary Spinocerebellar ataxia type 28 (SCA28) is characterized by young-adult onset, very slowly progressive gait and limb ataxia resulting in coordination and balance problems, dysarthria, ptosis, nystagmus, and ophthalmoparesis. In most individuals, SCA28 presents as a loss of coordination of lower limbs (unsteadine... | ## Diagnosis
Spinocerebellar ataxia type 28 (SCA28)
Onset generally in young adulthood (but with a wide range: ages 3-76 years)
A slowly progressive gait disorder resulting from cerebellar impairment
Cerebellar dysarthria
Oculomotor abnormalities including ophthalmoparesis, nystagmus and ptosis
Hyperreflexia or b... | [] | 17/5/2011 | 22/3/2018 | 7/2/2013 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
sca3 | sca3 | [
"Machado-Joseph Disease",
"SCA3",
"Machado-Joseph Disease",
"SCA3",
"Ataxin-3",
"ATXN3",
"Spinocerebellar Ataxia Type 3"
] | Spinocerebellar Ataxia Type 3 | Henry Paulson, Vikram Shakkottai | Summary Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including pyramidal signs, a dystonic-rigid extrapyramidal syndrome, significant peripheral amyotrophy and generalized areflexia, progressive external ophthal... | ## Diagnosis
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD),
Pyramidal signs
A dystonic-rigid extrapyramidal syndrome
Significant peripheral amyotrophy and generalized areflexia
Progressive external ophthalmoplegia
Action-induced facial and lingual fasciculations; bulging eyes
T... | [
"T Ashizawa, G Öz, HL Paulson. Spinocerebellar ataxias: prospects and challenges for therapy development.. Nat Rev Neurol 2018;14:590-605",
"P Braga-Neto, JL Pedroso, H Alessi, LA Dutra, AC Felício, T Minett, P Weisman, RF Santos-Galduroz, PH Bertolucci, AA Gabbai, OG Barsottini. Cerebellar cognitive affective sy... | 10/10/1998 | 4/6/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
sca36 | sca36 | [
"Asidan/SCA36",
"Costa da Morte Ataxia",
"SCA36",
"SCA36",
"Asidan/SCA36",
"Costa da Morte Ataxia",
"Nucleolar protein 56",
"NOP56",
"Spinocerebellar Ataxia Type 36"
] | Spinocerebellar Ataxia Type 36 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Manuel Arias, Beatriz Quintáns, María García-Murias, Maria J Sobrido | Summary Spinocerebellar ataxia type 36 (SCA36) is characterized by a late-onset, slowly progressive cerebellar syndrome typically associated with sensorineural hearing loss. Other common features are muscle atrophy and denervation, especially of the tongue, as well as pyramidal signs, thus overlapping with motor neuro... | ## Diagnosis
The clinical suspicion of spinocerebellar ataxia type 36 (SCA36) is based on the presence of the following nonspecific findings:
Midline cerebellar ataxia of late onset (usually between ages 40 and 60 years) and slow progression
Dysarthria and appendicular ataxia generally following the gait imbalance
... | [
"K Abe, Y Ikeda, T Kurata, Y Ohta, Y Manabe, M Okamoto, K Takamatsu, T Ohta, Y Takao, Y Shiro, M Shoji, T Kamiya, H Kobayashi, A. Koizumi. Cognitive and affective impairments of a novel SCA/MND crossroad mutation Asidan.. Eur J Neurol. 2012;19:1070-8",
"M Arias, S Arias-Rivas, P Blanco-Arias, D Dapena, F Vázquez,... | 7/8/2014 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
sca37 | sca37 | [
"SCA37",
"SCA37",
"Disabled homolog 1",
"DAB1",
"Spinocerebellar Ataxia Type 37"
] | Spinocerebellar Ataxia Type 37 | Antoni Matilla-Dueñas, Victor Volpini | Summary Spinocerebellar ataxia type 37 (SCA37) is characterized by adult onset, dysarthria, slowly progressive gait and limb ataxia with severe dysmetria in the lower extremities, mild dysmetria in the upper extremities, dysphagia, and abnormal ocular movements (dysmetric vertical saccades, irregular and slow vertical ... | ## Diagnosis
The phenotypic manifestations of spinocerebellar ataxia type 37 (SCA37) are not specific and no formal diagnostic criteria exist; thus, the diagnosis of SCA37 rests on molecular genetic testing. However, if autosomal dominant inheritance is apparent, or if pure cerebellar ataxia with adult onset, initial ... | [
"M Corral-Juan, C Serrano-Munuera, A Rábano, D Cota-González, A Segarra-Roca, L Ispierto, AT Cano-Orgaz, AD Adarmes, C Méndez-del-Barrio, S Jesús, P Mir, V Volpini, R Alvarez-Ramo, I Sánchez, A Matilla-Dueñas. Clinical, genetic and neuropathological characterisation of spinocerebellar ataxia type 37.. Brain 2018;14... | 30/5/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
sca38 | sca38 | [
"SCA38",
"Very long chain fatty acid elongase 5",
"ELOVL5",
"Spinocerebellar Ataxia Type 38"
] | Spinocerebellar Ataxia Type 38 | Alfredo Brusco, Eleonora Di Gregorio, Barbara Borroni | Summary Spinocerebellar ataxia type 38 (SCA38) is characterized as a pure cerebellar ataxia with symptoms typically manifesting in the fourth decade of life. The most common presenting features are nystagmus and slowly progressive gait ataxia. As the disease progresses, cerebellar symptoms (limb ataxia, dysarthria, dys... | ## Diagnosis
Formal clinical diagnostic criteria for spinocerebellar ataxia 38 (SCA38) have not been established.
Spinocerebellar ataxia type 38 (SCA38)
Slowly progressive gait ataxia with onset in adulthood (3rd-5th decade)
Nystagmus in the lateral and vertical gaze
Hyposmia
Cerebellar atrophy (sometimes r... | [] | 11/7/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
sca4 | sca4 | [
"SCA4",
"Spinocerebellar Ataxia 4",
"SCA4",
"Spinocerebellar Ataxia 4",
"Zinc finger homeobox protein 3",
"ZFHX3",
"Spinocerebellar Ataxia Type 4"
] | Spinocerebellar Ataxia Type 4 | Andreas Puschmann, Sigurd Dobloug, Joel Wallenius, Klas Wictorin, Sorina Gorcenco | Summary Spinocerebellar ataxia type 4 (SCA4) is a progressive neurologic disease characterized by cerebellar involvement (gait ataxia, balance disturbances, eye movement abnormalities), brain stem involvement (dysarthria, dysphagia), sensory neuropathy, motor neuron involvement (muscle wasting and spasticity), autonomi... | ## Diagnosis
No consensus diagnostic criteria for spinocerebellar ataxia type 4 (SCA4) have been published.
Spinocerebellar ataxia type 4 (SCA4)
Age of onset ranges from 12 to 65 years. About 10% of individuals have early onset (i.e., before age 25 years).
Although affected individuals may report dizziness when w... | [] | 12/12/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
sca6 | sca6 | [
"SCA6",
"SCA6",
"Voltage-dependent P/Q-type calcium channel subunit alpha-1A",
"CACNA1A",
"Spinocerebellar Ataxia Type 6"
] | Spinocerebellar Ataxia Type 6 | Hannah L Casey, Christopher M Gomez | Summary Spinocerebellar ataxia type 6 (SCA6) is characterized by adult-onset, slowly progressive cerebellar ataxia, dysarthria, and nystagmus. The age of onset ranges from 19 to 73 years; mean age of onset is between 43 and 52 years. Initial symptoms are gait unsteadiness, stumbling, and imbalance (in ~90%) and dysarth... | ## Diagnosis
Formal diagnostic criteria for spinocerebellar ataxia type 6 (SCA6) have not been established.
SCA6
The diagnosis of SCA6
Meiotic expansion of a 19-CAG repeat allele into the known pathogenic range [
Elderly asymptomatic individuals [
An individual with atypical features of SCA6 [
An ataxic indivi... | [] | 23/10/1998 | 21/11/2019 | 16/6/2008 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
sca7 | sca7 | [
"SCA7",
"SCA7",
"Ataxin-7",
"ATXN7",
"Spinocerebellar Ataxia Type 7"
] | Spinocerebellar Ataxia Type 7 | Albert R La Spada | Summary Spinocerebellar ataxia type 7 (SCA7) comprises a phenotypic spectrum ranging from adolescent- or adult-onset progressive cerebellar ataxia and cone-rod retinal dystrophy to infantile or early-childhood onset with multiorgan failure, an accelerated course, and early death. Anticipation in this nucleotide repeat ... | ## Diagnosis
Spinocerebellar ataxia type 7 (SCA7)
Progressive incoordination caused by cerebellar ataxia, including dysarthria/dysphagia, dysmetria, and dysdiadochokinesia.
Cone-rod retinal dystrophy with the following:
Loss of central vision
A tritan-axis (blue/yellow) defect on detailed color vision testing
M... | [] | 27/8/1998 | 23/7/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
sca8 | sca8 | [
"SCA8",
"SCA8",
"Ataxin-8",
"ATXN8",
"ATXN8OS",
"Spinocerebellar Ataxia Type 8"
] | Spinocerebellar Ataxia Type 8 | John Douglas Cleary, SH Subramony, Laura PW Ranum | Summary SCA8 is a slowly progressive ataxia with onset typically in the third to fifth decade but with a range from before age one year to after age 60 years. Common initial manifestations are scanning dysarthria with a characteristic drawn-out slowness of speech and gait instability. Over the disease course other find... | ## Diagnosis
Spinocerebellar ataxia type 8 (SCA8)
Gait and limb ataxia
Scanning dysarthria characterized by a drawn-out slowness of speech
Eye movement abnormalities (e.g., nystagmus, abnormal pursuit and abnormal saccades)
Often "extracerebellar signs" including:
Upper motor neuron findings (e.g., brisk tendon r... | [] | 27/11/2001 | 22/4/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
scad | scad | [
"SCADD",
"SCAD Deficiency",
"SCAD Deficiency",
"SCADD",
"Short-chain specific acyl-CoA dehydrogenase, mitochondrial",
"ACADS",
"Short-Chain Acyl-CoA Dehydrogenase Deficiency"
] | Short-Chain Acyl-CoA Dehydrogenase Deficiency | Lynne Wolfe, Reena Jethva, Devin Oglesbee, Jerry Vockley | Summary Most infants with short-chain acyl-CoA dehydrogenase deficiency (SCADD) identified through newborn screening programs have remained well, and asymptomatic relatives who meet diagnostic criteria are reported. Thus, SCADD is now viewed as a biochemical phenotype rather than a disease. A broad range of clinical fi... | ## Diagnosis
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) has been defined as the presence of:
Increased butyrylcarnitine (C4) concentrations in plasma and/or increased ethylmalonic acid (EMA) concentrations in urine under non-stressed conditions (on at least two occasions)
AND
Biallelic
Most infants with... | [] | 22/9/2011 | 9/8/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
scan1 | scan1 | [
"SCAN1, TDP1-Related Spinocerebellar Ataxia with Axonal Neuropathy",
"SCAN1",
"TDP1-Related Spinocerebellar Ataxia with Axonal Neuropathy",
"Tyrosyl-DNA phosphodiesterase 1",
"TDP1",
"Spinocerebellar Ataxia with Axonal Neuropathy Type 1"
] | Spinocerebellar Ataxia with Axonal Neuropathy Type 1 | Mustafa AM Salih, Hiroshi Takashima, Cornelius F Boerkoel | Summary Spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1) is characterized by late-childhood-onset slowly progressive cerebellar ataxia and distal sensorimotor axonal neuropathy. Gaze nystagmus and dysarthria usually develop after the onset of ataxic gait. As the disease advances, pain and touch sensation in... | ## Diagnosis
No consensus clinical diagnostic criteria for spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1) have been published.
SCAN1 is suspected in individuals with the following clinical findings, electrophysiologic studies, laboratory findings, brain imaging, and family history [
Slowly progressiv... | [] | 22/10/2007 | 30/6/2022 | 20/12/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
schaaf-yang | schaaf-yang | [
"Chitayat-Hall Syndrome",
"Chitayat-Hall Syndrome",
"MAGE-like protein 2",
"MAGEL2",
"Schaaf-Yang Syndrome"
] | Schaaf-Yang Syndrome | Christian P Schaaf, Felix Marbach | Summary Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder that shares multiple clinical features with the genetically related The diagnosis of Schaaf-Yang syndrome is established in a proband by identification of a heterozygous pathogenic variant in the paternally derived Schaaf-Yang syndrome is inherite... | ## Diagnosis
Formal clinical diagnostic criteria for Schaaf-Yang syndrome (SYS) have not been established.
SYS
Generalized hypotonia of infancy
Respiratory distress in infancy
Infant feeding difficulties with failure to thrive
Hyperphagia with subsequent obesity in childhood or adolescence
Mild-to-profound dev... | [] | 11/2/2021 | 4/11/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
schinzel-giedion | schinzel-giedion | [
"Classic Schinzel-Giedion Syndrome",
"Atypical Schinzel-Giedion Syndrome",
"SET-binding protein",
"SETBP1",
"Schinzel-Giedion Syndrome"
] | Schinzel-Giedion Syndrome | Jessica Duis, Bregje WM van Bon | Summary Classic Schinzel-Giedion syndrome (SGS), an ultra-rare multisystem disorder caused by gain-of-function pathogenic variants in a To date, more than 50 individuals have been reported with molecularly confirmed classic SGS. Atypical SGS, reported in five individuals to date, is caused by pathogenic The diagnosis o... | Pathogenic variants in
Spectrum of Phenotypes Associated with
Broad spectrum of clinical features of variable severity that partially overlap w/classic SGS
Atypical SGS is milder than classic SGS.
"
Note: "
See
• Broad spectrum of clinical features of variable severity that partially overlap w/classic SGS
• A... | [] | 7/3/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
schmid-mcd | schmid-mcd | [
"Metaphyseal Chondrodysplasia Type Schmid (MCDS)",
"Metaphyseal Dysplasia Schmid (MCS), COL10A1-Related",
"Metaphyseal Chondrodysplasia Type Schmid (MCDS)",
"Metaphyseal Dysplasia Schmid (MCS), COL10A1-Related",
"Collagen alpha-1(X) chain",
"COL10A1",
"Schmid Metaphyseal Chondrodysplasia"
] | Schmid Metaphyseal Chondrodysplasia | Christopher Mark Richmond, Ravi Savarirayan | Summary Schmid metaphyseal chondrodysplasia (SMCD) is characterized by progressive short stature that develops by age two years. The clinical and radiographic features are usually not present at birth, but manifest in early childhood with short limbs, genu varum, and waddling gait. Facial features and head size are nor... | ## Diagnosis
No formal diagnostic criteria for Schmid metaphyseal chondrodysplasia (SMCD) have been established.
SMCD
Short-limbed short stature by age two years (in >60%)
Genu varum (bowed legs) (>60%)
Waddling gait (>80%)
Lumbar lordosis by age three to five years
Normal craniofacies and absence of extraskel... | [] | 21/10/2019 | 9/5/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
schwann | schwann | [
"Congenital Cutaneous Neurilemmomatosis",
"Leucine-zipper-like transcriptional regulator 1",
"SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1",
"LZTR1",
"SMARCB1",
"Schwannomatosis"
] | Radhika Dhamija, Scott Plotkin, Alicia Gomes, Dusica Babovic-Vuksanovic | Summary The diagnosis of | ## Diagnosis
Consensus diagnostic criteria for
Two or more non-intradermal tumors suggestive of schwannomas
Absence of bilateral vestibular schwannomas
A family history of schwannomatosis consistent with autosomal dominant inheritance (e.g., affected males and females in multiple generations). Absence of a known fa... | [] | 8/3/2018 | 27/7/2023 | 25/4/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
scn3a-ndd | scn3a-ndd | [
"Sodium channel protein type 3 subunit alpha",
"SCN3A",
"SCN3A-Related Neurodevelopmental Disorder"
] | Katherine L Helbig, Ethan M Goldberg | Summary The diagnosis of | ## Diagnosis
Clinical diagnostic criteria for
Intractable seizures beginning in the first year of life, particularly in the first month of life (median age 2 weeks)
Developmental delay or intellectual disability, often in the severe-to-profound range in those with early-onset developmental and epileptic encephalop... | [] | 3/6/2021 | 1/5/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
scn8a-ee | scn8a-ee | [
"SCN8A-Related Developmental and Epileptic Encephalopathy (DEE)",
"SCN8A-Related Mild-to-Moderate Developmental and Epileptic Encephalopathy (mild/modDEE)",
"SCN8A-Related Self-Limited Familial Infantile Epilepsy (SeLFIE)",
"SCN8A-Related Neurodevelopmental Disorder with Generalized Epilepsy (NDDwGE)",
"SCN... | Michael F Hammer, Maya Xia, John M Schreiber | Summary The diagnosis of | For other genetic causes of these phenotypes, see
## Diagnosis
No consensus clinical diagnostic criteria for
Childhood-onset seizures: seizure onset variable, ranges from the first few months to the first few years of life
Development of multiple seizure types, including focal, multifocal, or generalized seizur... | [] | 25/8/2016 | 6/4/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
scs | scs | [
"Acrocephalosyndactyly Type III",
"Acrocephalosyndactyly Type III",
"Twist-related protein 1",
"TWIST1",
"Saethre-Chotzen Syndrome"
] | Saethre-Chotzen Syndrome | Emily R Gallagher, Chootima Ratisoontorn, Michael L Cunningham | Summary Classic Saethre-Chotzen syndrome (SCS) is characterized by coronal synostosis (unilateral or bilateral), facial asymmetry (particularly in individuals with unicoronal synostosis), strabismus, ptosis, and characteristic appearance of the ear (small pinna with a prominent superior and/or inferior crus). Syndactyl... | ## Diagnosis
Saethre-Chotzen syndrome (SCS)
Craniosynostosis (premature fusion of one or more sutures of the calvarium)
The coronal suture is the most commonly affected, although any or all sutures can be affected.
Craniosynostosis often presents with an abnormal skull shape (e.g., brachycephaly [short, broad skull... | [
"P Bourgeois, AL Bolcato-Bellemin, JM Danse, A Bloch-Zupan, K Yoshiba, C Stoetzel, F Perrin-Schmitt. The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome.. Hum Mol Genet 1998;7:945-57",
"J Cai, BK Goodman, AS Patel, JB ... | 16/5/2003 | 24/1/2019 | 14/6/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
sd-thes | sd-thes | [
"Phenotypic Diarrhea of Infancy",
"Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome (SD/THE)",
"THES",
"THES",
"Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome (SD/THE)",
"Phenotypic Diarrhea of Infancy",
"Tricho-Hepato-Enteric Syndrome",
"Superkiller complex protein 2",
"Superkiller complex prot... | Trichohepatoenteric Syndrome | Alexandre Fabre, Patrice Bourgeois, Charlène Chaix, Karine Bertaux, Olivier Goulet, Catherine Badens | Summary Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. Additional findings include poorly character... | ## Diagnosis
To date, no diagnostic algorithm for trichohepatoenteric syndrome (THES) has been published.
THES
* The association of neonatal intractable diarrhea and IUGR suggests the diagnosis of THES.
The diagnosis of THES
Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variant" a... | [] | 11/1/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
sds | sds | [
"Shwachman-Bodian-Diamond Syndrome",
"Shwachman-Bodian-Diamond Syndrome",
"DnaJ homolog subfamily C member 21",
"Elongation factor-like GTPase 1",
"Ribosome maturation protein SBDS",
"Signal recognition particle subunit SRP54",
"DNAJC21",
"EFL1",
"SBDS",
"SRP54",
"Shwachman-Diamond Syndrome"
] | Shwachman-Diamond Syndrome | Adam Nelson, Kasiani Myers | Summary Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML); and bone abnorma... | ## Diagnosis
No consensus clinical diagnostic criteria for Shwachman-Diamond syndrome (SDS) have been published.
SDS
Low serum concentrations of the pancreatic enzymes trypsinogen and/or isoamylase for age. Note: Measurement of trypsinogen concentration should be used in children age 3 years [
Low levels of fecal... | [] | 17/7/2008 | 19/9/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
sedt | sedt | [
"TRAPPC2-Related X-Linked Spondyloepiphyseal Dysplasia Tarda",
"TRAPPC2-Related X-Linked Spondyloepiphyseal Dysplasia Tarda",
"Trafficking protein particle complex subunit 2",
"TRAPPC2",
"X-Linked Spondyloepiphyseal Dysplasia Tarda"
] | X-Linked Spondyloepiphyseal Dysplasia Tarda | George E Tiller | Summary In adults, X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is characterized by disproportionately short stature with short trunk and arm span significantly greater than height. At birth, affected males are normal in length and have normal body proportions. Affected males exhibit linear growth defici... | ## Diagnosis
No consensus clinical diagnostic criteria for X-linked spondyloepiphyseal dysplasia tarda have been published.
X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT)
Disproportionate short stature in adolescence or adulthood and a relatively short trunk and barrel-shaped chest. Upper- to lower-body... | [
"J Fiedler, M Le Merrer, G Mortier, S Heuertz, L Faivre, RE Brenner. X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families.. Hum Mutat 2004;24:103",
"J Gécz, MA Hillman, AK Gedeon, TC Cox, E Baker, JC Mulley. Gene structure and expression study of the SEDL gene for spo... | 1/11/2001 | 5/11/2020 | 6/4/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
serine-def | serine-def | [
"Serine Biosynthesis Disorders",
"Serine Synthesis Disorders",
"Serine Biosynthesis Disorders",
"Serine Synthesis Disorders",
"Neu-Laxova Syndrome",
"D-3-phosphoglycerate dehydrogenase",
"Phosphoserine aminotransferase",
"Phosphoserine phosphatase",
"PHGDH",
"PSAT1",
"PSPH",
"Serine Deficiency... | Serine Deficiency Disorders | Saskia N van der Crabben, Tom J de Koning | Summary Serine deficiency disorders include a spectrum of disease ranging from lethal prenatal-onset Neu-Laxova syndrome to serine deficiency with infantile, juvenile, or adult onset. Neu-Laxova syndrome is characterized by severe intrauterine growth deficiency, microcephaly, congenital bilateral cataracts, characteris... | Serine Deficiency Disorders: Phenotypic Spectrum
Infantile-onset phenotype: severe neurodevelopmental disorder w/epilepsy & microcephaly
Juvenile-onset phenotype: developmental & behavioral issues & epilepsy
Adult-onset phenotype: progressive axonal neuropathy, variable ataxia &/or cognitive impairment
For other ge... | [] | 22/6/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
setbp1-hd | setbp1-hd | [
"SETBP1 Disorder",
"SETBP1 Disorder",
"SET-binding protein",
"SETBP1",
"SETBP1 Haploinsufficiency Disorder"
] | Angela Morgan, Siddharth Srivastava, Jessica Duis, Bregje van Bon | Summary The diagnosis of | Pathogenic variants in
Spectrum of Phenotypes Associated with
## Diagnosis
No consensus clinical diagnostic criteria for
Motor developmental delay (in 97%)
Developmental delay / mild-to-severe intellectual disability
Learning difficulties
Speech and language disorder (including childhood apraxia of speech)
... | [] | 18/11/2021 | 9/5/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
setd1b-ndd | setd1b-ndd | [
"Histone-lysine N-methyltransferase SETD1B",
"SETD1B",
"SETD1B-Related Neurodevelopmental Disorder"
] | Alexandra Roston, William Gibson | Summary The diagnosis of | ## Diagnosis
Developmental delay (especially speech and language delay)
Intellectual disability (ID)
Seizures that are frequently refractory to treatment
Autism spectrum disorder or autism-like behaviors
Other behavioral concerns (hyperactivity, aggression, anxiety, sleep disorders)
The diagnosis of
Note: (1) Pe... | [] | 29/9/2022 | 27/2/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
setd2-ndd | setd2-ndd | [
"SETD2 Neurodevelopmental Disorder with or without Macrocephaly/Overgrowth",
"SETD2 Neurodevelopmental Disorder with Multiple Congenital Anomalies",
"Histone-lysine N-methyltransferase SETD2",
"SETD2",
"SETD2 Neurodevelopmental Disorders"
] | John Pappas, Rachel Rabin | Summary The diagnosis of a | For other genetic causes of these phenotypes, see
## Diagnosis
No consensus clinical diagnostic criteria for
Congenital heart defects
Urogenital anomalies
Ophthalmologic findings including
Low anterior hairline
Biparietal narrowing
Flat face with maxillary hypoplasia
Arched eyebrows
Widely spaced eyes
Shor... | [] | 30/12/2021 | 22/9/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
sft | sft | [
"Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase",
"GNE",
"Sialuria"
] | Sialuria – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Jules G Leroy | Summary Sialuria is characterized by variable and transient signs and symptoms, especially in infancy. These include slightly flat and coarse facies, prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, and episodes of gastroenteritis, dehydration, and ... | ## Diagnosis
The diagnosis of sialuria may be suspected in infants or young children with the following:
Mild facial coarsening
Hypotonia
Equivocal developmental delay
Frequent upper respiratory infections
Note: The likelihood of sialuria is increased after exclusion of more prevalent disorders that share laborat... | [
"Z Argov, I Eisenberg, G Grabov-Nardini, M Sadeh, I Wirguin, D Soffer, S Mitrani-Rosenbaum. Hereditary inclusion body myopathy: the Middle Eastern genetic cluster.. Neurology. 2003;60:1519-23",
"Z Argov, S Mitrani-Rosenbaum. The hereditary inclusion body myopathy enigma and its future therapy.. Neurotherapeutics.... | 14/1/2004 | 18/10/2012 | 27/2/2007 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
sgbs | sgbs | [
"Glypican-3",
"GPC3",
"Simpson-Golabi-Behmel Syndrome Type 1"
] | Simpson-Golabi-Behmel Syndrome Type 1 | Alex F Nisbet, Evan R Hathaway, Jennifer M Kalish | Summary Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palate abnormalities); and, commonly, mild-to-severe intellectual disability with or without structur... | ## Diagnosis
For the purposes of this
Consensus clinical diagnostic criteria for Simpson-Golabi-Behmel syndrome type 1 (SGBS1) have not been established.
SGBS1
Widely spaced eyes, epicanthal folds, and downslanted palpebral fissures
Redundant, furrowed skin over the glabella
Wide nasal bridge and antevert... | [] | 19/12/2006 | 7/12/2023 | 14/11/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
sgpl1 | sgpl1 | [
"SGPL1 Deficiency",
"Steroid-Resistant Nephrotic Syndrome Type 14",
"SGPL1 Deficiency",
"Steroid-Resistant Nephrotic Syndrome Type 14",
"Sphingosine-1-phosphate lyase 1",
"SGPL1",
"Sphingosine Phosphate Lyase Insufficiency Syndrome"
] | Sphingosine Phosphate Lyase Insufficiency Syndrome | Kathryn Nicole Weaver, Bonnie Sullivan, Friedhelm Hildebrandt, Jonathan Strober, Megan Cooper, Rathi Prasad, Julie Saba | Summary Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is characterized by varying combinations of steroid-resistant nephrotic syndrome (ranging from nonimmune fetal hydrops to adolescent onset), primary adrenal insufficiency (with or without mineralocorticoid deficiency), testicular insufficiency, hypothyr... | ## Diagnosis
Sphingosine phosphate lyase insufficiency syndrome (SPLIS)
Primary adrenal insufficiency (low cortisol with normal or high ACTH). Typically, glucocorticoid deficiency; some individuals also have mineralocorticoid deficiency.
Testicular insufficiency (increased gonadotropins, poor response to LH stim... | [] | 15/10/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
sgs | sgs | [
"Ski oncogene",
"SKI",
"Shprintzen-Goldberg Syndrome"
] | Shprintzen-Goldberg Syndrome | Marie T Greally | Summary Shprintzen-Goldberg syndrome (SGS) is characterized by: delayed motor and cognitive milestones and mild-to-moderate intellectual disability; craniosynostosis of the coronal, sagittal, or lambdoid sutures; distinctive craniofacial features; and musculoskeletal findings including olichostenomelia, arachnodactyly,... | ## Diagnosis
Formal diagnostic criteria for Shprintzen-Goldberg syndrome (SGS) have not been established.
SGS
Dolichocephaly with or without scaphocephaly
Tall or prominent forehead
Hypertelorism
Downslanting palpebral fissures
Ocular proptosis
Malar flattening
High narrow palate with prominent palatine ridg... | [
"LC Adès, K Sullivan, A Biggin, EA Haan, M Brett, KJ Holman, J Dixon, S Robertson, AD Holmes, J Rogers, B Bennetts. FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.. Am J Med Genet A. 2006;140:1047-58",
"PY Au, HE Racher, JM Graham, N Kramer, RB Lowry, JS Parboosingh, AM Innes... | 13/1/2006 | 9/4/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
shashi-pena | shashi-pena | [
"SHAPNS",
"SHAPNS",
"Putative Polycomb group protein ASXL2",
"ASXL2",
"Shashi-Pena Syndrome"
] | Shashi-Pena Syndrome | Julie M Porter, Loren DM Pena, Rebecca C Spillmann, Amanda Johnson, Vandana Shashi | Summary Shashi-Pena syndrome is characterized by distinctive facial features accompanied by variable further clinical findings. Facial features may include glabellar nevus simplex, widely spaced and prominent/proptotic eyes with epicanthal folds and ptosis, arched eyebrows, broad nasal tip, and low-set/posteriorly rota... | ## Diagnosis
No consensus clinical diagnostic criteria for Shashi-Pena syndrome have been published.
Shashi-Pena syndrome
Distinctive facial features (most recognizable in infancy and becoming less discernible in older individuals) (see
Nevus simplex in the glabellar region of the forehead
Widely spaced and prom... | [] | 7/11/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
short | short | [
"Phosphatidylinositol 3-kinase regulatory subunit alpha",
"PIK3R1",
"SHORT Syndrome"
] | SHORT Syndrome | A Micheil Innes, David A Dyment | Summary SHORT syndrome is a mnemonic for The diagnosis of SHORT syndrome is established in a proband with compatible clinical features (with emphasis on the facial gestalt) and a heterozygous pathogenic variant in SHORT syndrome is inherited in an autosomal dominant manner. The proportion of individuals with SHORT synd... | ## Diagnosis
The designation SHORT syndrome was coined by
SHORT syndrome
Intrauterine growth restriction
Short stature
Partial lipodystrophy
Characteristic facial gestalt (see
Axenfeld-Rieger anomaly or related anterior chamber ocular anomalies
Delayed dentition
Insulin resistance / diabetes mellitus
No forma... | [] | 15/5/2014 | 4/6/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
sickle | sickle | [
"Sickle Cell Disease Due to Hb S/S",
"Sickle-Hemoglobin C Disease (Hb S/C)",
"Sickle Beta-Thalassemia",
"Hemoglobin subunit beta",
"HBB",
"Sickle Cell Disease"
] | Sickle Cell Disease | MA Bender, Katie Carlberg | Summary Sickle cell disease (SCD) is characterized by intermittent vaso-occlusive events and chronic hemolytic anemia. Vaso-occlusive events result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, including the bones, spleen, liver, brain, lungs, kidneys, an... | Homozygous p.Glu6Val (Hb S/S)
Sickle cell disease due to Hb S/S
Compound heterozygosity for p.Glu6Val (HbS) and a second
Sickle-hemoglobin C disease (Hb S/C)
Sickle beta-thalassemia (Hb S/β
HbS and another pathogenic beta globin chain variant (e.g., Hb S/D, Hb S/O
For synonyms and outdated names see
• Homozygous... | [] | 15/9/2003 | 17/11/2022 | 13/2/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
sider-anemia | sider-anemia | [
"ATP-binding cassette sub-family B member 7, mitochondrial",
"ABCB7",
"X-Linked Sideroblastic Anemia and Ataxia"
] | X-Linked Sideroblastic Anemia and Ataxia – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Soumeya Bekri, Marc D'Hooghe, Pieter Vermeersch | Summary X-linked sideroblastic anemia and ataxia (XLSA/A) is characterized by moderate anemia and early-onset spinocerebellar syndrome in males, manifest primarily as delayed walking, ataxia evident in early childhood, dysmetria, and dysdiadochokinesis. When present the intention tremor is mild and the dysarthria is m... | ## Diagnosis
Ataxia and incoordination. Note:
Upper motor neuron (UMN) signs (i.e., brisk deep tendon reflexes, unsustained ankle clonus, and equivocal or extensor plantar responses) in the legs (present in some males)
Mild asymptomatic hypochromic, microcytic anemia
Hematocrit ranges from 26% to 35%.
Mean corpusc... | [
"R Allikmets, WH Raskind, A Hutchinson, ND Schueck, M Dean, DM Koeller. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).. Hum Mol Genet. 1999;8:743-9",
"S Bekri, G Kispal, H Lange, E Fitzsimons, J Tolmie, R Lill, DF Bishop. Human ABC7 transpor... | 1/3/2006 | 3/4/2014 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
siod | siod | [
"SMARCAL1-Related Immuno-osseous Dysplasia (Schimke Type)",
"SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1",
"SMARCAL1",
"Schimke Immunoosseous Dysplasia"
] | Schimke Immunoosseous Dysplasia | Elizabeth Lippner, Thomas Lücke, Carlos Salgado, Cornelius Boerkoel, David B Lewis | Summary Schimke immunoosseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia (SED) resulting in short stature, nephropathy, and T cell deficiency. Radiographic manifestations of SED include ovoid and mildly flattened vertebral bodies, small ilia with shallow dysplastic acetabular fossae, and small de... | ## Diagnosis
No consensus clinical diagnostic criteria for Schimke immunoosseous dysplasia (SIOD) have been published.
SIOD
Ovoid and mildly flattened vertebral bodies; endplate irregularities, wedged vertebrae, and narrowed vertebral spaces have been reported.
Small ilia with hypoplastic basilar portions and... | [
"CE Bansbach, R Bétous, CA Lovejoy, GG Glick, D Cortez. The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks.. Genes Dev. 2009;23:2405-14",
"CE Bansbach, CF Boerkoel, D Cortez. SMARCAL1 and replication stress: An explanation for SIOD?. Nucleus. 2010;1:245-8",
"A Baradaran-Hera... | 1/10/2002 | 14/4/2022 | 30/3/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
slc12a5-e | slc12a5-e | [
"Early-Infantile Epileptic Encephalopathy 34 (EIEE34)",
"SLC12A5-EIMFS",
"Early-Infantile Epileptic Encephalopathy 34 (EIEE34)",
"SLC12A5-EIMFS",
"Solute carrier family 12 member 5",
"SLC12A5",
"SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures"
] | Amy McTague, Manju A Kurian | Summary The diagnosis of | ## Diagnosis
Since 2010 a description of the characteristic symptoms and findings of epilepsy of infancy with migrating focal seizures (EIMFS) has been included in the classification of epilepsy syndromes by the International League Against Epilepsy. The diagnosis of
Seizure onset before age six months
Development... | [
"C Barba, F Darra, R Cusmai, E Procopio, C Dionisi Vici, L Keldermans, S Vuillaumier-Barrot, DJ Lefeber, R Guerrini, E Parrini, A Ashikov, A Bordugo, G Cantalupo, G Casara, BD Bernardina, M Falchi, L Ferri, D Martinelli, A Morrone, V Race, A Rosati, E Souche. Congenital disorders of glycosylation presenting as epil... | 14/2/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
slc19a1-ft-def | slc19a1-ft-def | [
"Reduced folate transporter",
"SLC19A1",
"SLC19A1-Related Folate Transport Deficiency"
] | I David Goldman | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Birth weight and head circumference that are in the lower ranges of the typical growth chart for age and sex
Poor postnatal growth
Developmental delay, including gross motor (gait), speech/language, and cognitive skills
Seizures
Recurrent infections, pa... | [] | 14/8/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
slc25a24-fps | slc25a24-fps | [
"Hutchinson-Gilford Progeria-Like Syndrome",
"Fontaine-Farriaux Syndrome",
"Gorlin-Chaudhry-Moss Syndrome (GCMS)",
"Mitochondrial adenyl nucleotide antiporter SLC25A24",
"SLC25A24",
"SLC25A24 Fontaine Progeroid Syndrome"
] | Danita Velasco, Ann Haskins Olney, Lois Starr | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Pre- and postnatal growth failure
Sagging, thin, and translucent skin with decreased subcutaneous fat, contributing to a progeroid appearance, most pronounced in infancy
Distinctive craniofacial features (
Cranial underossification with large anterior fo... | [
"N Adolphs, M Klein, EJ Haberl, L Graul-Neumann, H Menneking, B Hoffmeister. Necrotizing soft tissue infection of the scalp after fronto-facial advancement by internal distraction in a 7-year old girl with Gorlin-Chaudhry-Moss syndrome--a case report.. J Craniomaxillofac Surg. 2011;39:554-61",
"SR Braddock, HH Ar... | 9/6/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
slc39a14-def | slc39a14-def | [
"Hypermanganesemia with Dystonia 2 (HMNDYT2)",
"SLC39A14-Related Early-Onset Dystonia-Parkinsonism",
"SLC39A14-Related Early-Onset Dystonia-Parkinsonism",
"Hypermanganesemia with Dystonia 2 (HMNDYT2)",
"Metal cation symporter ZIP14",
"SLC39A14",
"SLC39A14 Deficiency"
] | SLC39A14 Deficiency | Karin Tuschl, Allison Gregory, Esther Meyer, Peter T Clayton, Susan J Hayflick, Philippa B Mills, Manju A Kurian | Summary SLC39A14 deficiency is typically characterized by evidence of delay or loss of motor developmental milestones (e.g., delayed walking, gait disturbance) between ages six months and three years. Early in the disease course, children show axial hypotonia followed by dystonia, spasticity, dysarthria, bulbar dysfunc... | ## Diagnosis
SLC39A14 deficiency
Delay in acquisition of developmental motor milestones or loss of developmental motor milestones
Progressive pharmaco-resistant dystonia
Parkinsonism signs (tremor, bradykinesia, hypomimia)
Bulbar dysfunction
Dysarthria
Note: One individual with onset of dystonia during the secon... | [
"KA Alhasan, W Alshuaibi, MH Hamad, S Salim, DZ Jamjoom, AH Alhashim, MA AlGhamdi, AY Kentab, FA Bashiri. Hypermanganesemia with dystonia type 2: a potentially treatable neurodegenerative disorder: a case series in a tertiary university hospital.. Children (Basel) 2022;9:1335",
"S Anazi, S Maddirevula, E Faqeih, ... | 25/5/2017 | 8/12/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
slc39a8-cdg | slc39a8-cdg | [
"CDG-IIn",
"Congenital Disorder of Glycosylation Type IIn (CDG2N)",
"SLC39A8 Deficiency",
"CDG-IIn",
"Congenital Disorder of Glycosylation Type IIn (CDG2N)",
"SLC39A8 Deficiency",
"Metal cation symporter ZIP8",
"SLC39A8",
"SLC39A8-CDG"
] | SLC39A8-CDG | Julien H Park | Summary SLC39A8-CDG is characterized by mild-to-profound developmental delay, intellectual disability, hypotonia, feeding difficulties with poor weight gain and growth deficiency, dystonia, spasticity, epilepsy, ophthalmologic manifestations including cortical blindness and strabismus, and sensorineural hearing impairm... | ## Diagnosis
SLC39A8-CDG
Mild-to-profound developmental delay and/or intellectual disability
Generalized hypotonia of infancy
Feeding difficulties with poor weight gain and growth deficiency
Movement disorder with marked dystonia
Spasticity
Epilepsy, especially severe infantile epileptic spasms not responding ... | [] | 6/4/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
slc6a1-ndd | slc6a1-ndd | [
"SLC6A1-Related Disorder",
"SLC6A1 Deficiency Disorder",
"SLC6A1-Related Disorder",
"SLC6A1 Deficiency Disorder",
"Sodium- and chloride-dependent GABA transporter 1",
"SLC6A1",
"SLC6A1-Related Neurodevelopmental Disorder"
] | Kimberly Goodspeed, Scott Demarest, Katrine Johannesen, Jingqiong Kang, Dennis Lal, Katie Angione | Summary The diagnosis of | ## Diagnosis
Mild-to-severe developmental delay (DD) and/or intellectual disability (ID)
Generalized hypotonia of infancy
Epilepsy including absence or atypical absence seizures, epilepsy with myoclonic-atonic seizures, generalized tonic-clonic seizures
Movement disorders such as tremor, stereotypies, and ataxia
... | [
"JM Bain, LG Snyder, KL Helbig, DD Cooper, WK Chung, K Goodspeed. Consistency of parent-report SLC6A1 data in Simons Searchlight with provider-based publications.. J Neurodev Disord. 2022;14:40",
"GL Carvill, JM McMahon, A Schneider, M Zemel, CT Myers, J Saykally, J Nguyen, A Robbiano, F Zara, N Specchio, O Mecar... | 9/2/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
slc6a3-dtds | slc6a3-dtds | [
"DAT Deficiency",
"DAT Deficiency",
"Classic Early-Onset Dopamine Transporter Deficiency Syndrome (DTDS)",
"Atypical Later-Onset Dopamine Transporter Deficiency Syndrome (DTDS)",
"Sodium-dependent dopamine transporter",
"SLC6A3",
"SLC6A3-Related Dopamine Transporter Deficiency Syndrome"
] | Robert VV Spaull, Manju A Kurian | Summary The diagnosis of In most individuals reported to date, Once the | Classic early-onset dopamine transporter deficiency syndrome (DTDS)
Atypical later-onset DTDS
• Classic early-onset dopamine transporter deficiency syndrome (DTDS)
• Atypical later-onset DTDS
## Diagnosis
Classic early-onset and atypical later-onset
Onset usually within the first six months of life
Early nonsp... | [] | 27/7/2017 | 28/9/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
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