( () -ii deficiency / // 1d 2c 3-M 3-methylcrotonyl-coa 3-methylglutaconic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like 3MC 3c 3p- A ABCD ACCES ADN ADOCBL ADULT AIT AMED Aarskog-Scott Abdominal Abdominal obesity-metabolic Ablepharon-macrostomia Abruzzo-Erickson Achalasia-addisonianism-alacrimia Achille Acrocallosal Acropectoral Adams-Oliver Addison Advance Advance sleep phase Advanced Advanced sleep phase Advanced sleep-phase Agenesis Agenesis of corpus callosum, cardiac, ocular, and genital Aicardi Aicardi-Goutieres Al Al Kaissi Al-Gazali Al-Gazali-Bakalinova Al-Raqad Alacrima Alacrima, achalasia, and impaired intellectual development Alagille Alazami Alazami-Yuan Albinism-deafness Alkuraya-Kucinskas Allan-Herndon-Dudley Alopecia Alopecia, neurologic defects, and endocrinopathy Alopecia-intellectual Alopecia-intellectual disability Alpha-thalassemia Alpha-thalassemia myelodysplasia Alpha-thalassemia/impaired Alpha-thalassemia/impaired intellectual development Alpha-thalassemia/mental Alpha-thalassemia/mental retardation Alport Alstrom Alzahrani-Kuwahara Alzheimer Amelia Amelia, posterior, with pelvic and pulmonary hypoplasia Amelogenesis Amelogenesis imperfecta, type IG (enamel-renal Andersen Angelman Antiphospholipid Antley-Bixler Apert Arboleda-Tham Arnold-Chiari Aromatase Aromatase excess Arterial Arterial tortuosity Arts Asperger Ataxia Ataxia, intention tremor, and hypotonia Ataxia-pancytopenia Atelis Athabaskan Athabaskan brainstem dysgenesis Atrioventricular Atrioventricular septal defect, partial, with heterotaxy Au-Kline Auriculocondylar Autoimmune Autoimmune lymphoproliferative Autoimmune polyendocrinopathy Autoinflammation Autoinflammation, antibody deficiency, and immune dysregulation Autoinflammation, panniculitis, and dermatosis Autoinflammatory Autoinflammatory-pancytopenia Axenfeld-Rieger Ayme-Gripp B1 B2 B6 B9 BDV Bachmann-Bupp Bainbridge-Ropers Baker-Gordon Baller-Gerold Bamforth-Lazarus Baraitser-Winter Baralle-Macken Barber-Say Bardet-Biedl Bare Bare lymphocyte Bart-Pumphrey Barth Bartter Basal Basal cell nevus Basan Basel-Vanagait-Smirin-Yosef Basilicata-Akhtar Bazex Beare-Stevenson Beare-Stevenson cutis gyrata Beaulieu-Boycott-Innes Beck-Fahrner Beckwith-Wiedemann Behr Bell Bent Bent bone dysplasia Berger Bernard-Soulier Best Biliary Biliary, renal, neurologic, and skeletal Birk-Barel Birk-Landau-Perez Birt-Hogg-Dube Bjornstad Blau Blepharocheilodontic Blepharophimosis-impaired Blepharophimosis-impaired intellectual development Bloom Bohring-Opitz Bone Bone marrow failure Bone marrow failure and diabetes mellitus Bor-Duane Bor-Duane hydrocephalus contiguous gene Borjeson-Forssman-Lehmann Bosch-Boonstra-Schaaf Bosch-Boonstra-Schaaf optic atrophy Bosley-Salih-Alorainy Bosma Bosma arhinia microphthalmia Boucher-Neuhauser Boudin-Mortier Bowen-Conradi Brachydactyly-syndactyly Braddock-Carey Brain Brain tumor-polyposis Branchial Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism Branchiooculofacial Branchiootic Branchiootorenal Brittle Brittle cornea Brooke-Spiegler Brown-Vialetto-Van Brown-Vialetto-Van Laere Bruck Brugada Brunet-Wagner Brunet-Wagner neurodevelopmental Brunner Bryant-Li-Bhoj Bryant-Li-Bhoj neurodevelopmental Budd-Chiari Buratti-Harel Burn-McKeown Buschke-Ollendorff C C2-C3 CAE CAPOS CARASIL CATIFA CATSHL CBH CD4+ CD8+ CDAGS CEBALID CHAND CHARGE CHILD CHIME CHOPS CIMDAG CINCA CK CLAPO CLOVE COACH CODAS COMMAD CPK CRASH Camptodactyly-arthropathy-coxa Camptodactyly-arthropathy-coxa vara-pericarditis Cardiac Cardiac arrhythmia Cardiac-urogenital Cardiofaciocutaneous Cardiofacioneurodevelopmental Cardiospondylocarpofacial Carey-Fineman-Ziter Carpal Carpal tunnel Carpenter Caspase Caspase 8 lymphadenopathy Cat Cat eye Catel-Manzke Caudal Caudal regression Cayler Cayler cardiofacial Cenani-Lenz Cenani-Lenz syndactyly Central Central hypoventilation Cerebellar Cerebellar ataxia, impaired intellectual development and dysequilibrium Cerebellar ataxia, impaired intellectual development, and dysequilibrium Cerebellar ataxia, impaired intellectual development, and dysquilibrium Cerebellar ataxia, neuropathy, and vestibular areflexia Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium Cerebellar, ocular, craniofacial, and genital Cerebellofaciodental Cerebral Cerebral creatine deficiency Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma Cerebral-cerebellar-coloboma Cerebrocostomandibular Cerebrooculofacioskeletal Chanarin-Dorfman Char Chediak-Higashi Chilton-Okur-Chung Chilton-Okur-Chung neurodevelopmental Chitayat Cholestasis-lymphedema Chopra-Amiel-Gordon Chromosome Chromosome 10q22.3-q23.2 deletion Chromosome 10q26 deletion Chromosome 11p13 deletion Chromosome 11p15-p14 deletion Chromosome 13q14 deletion Chromosome 13q33-q34 deletion Chromosome 14q11-q22 deletion Chromosome 15q11.2 deletion Chromosome 15q13.3 microdeletion Chromosome 15q14 deletion Chromosome 15q25 deletion Chromosome 15q26-qter deletion Chromosome 16p11.2 deletion Chromosome 16p11.2 duplication Chromosome 16p12.1 deletion Chromosome 16p12.2-p11.2 deletion Chromosome 16p13.3 deletion Chromosome 16p13.3 duplication Chromosome 16q12 duplication Chromosome 16q22 deletion Chromosome 17p13.1 deletion Chromosome 17p13.3 duplication Chromosome 17q11.2 deletion Chromosome 17q11.2 duplication Chromosome 17q12 deletion Chromosome 17q12 duplication Chromosome 17q21.31 duplication Chromosome 17q23.1-q23.2 deletion Chromosome 17q23.1-q23.2 duplication Chromosome 18p deletion Chromosome 18q deletion Chromosome 19p13.13 deletion Chromosome 19p13.13 duplication Chromosome 19q13.11 deletion Chromosome 1p35 deletion Chromosome 1p36 deletion Chromosome 1p36.33 duplication Chromosome 1q21.1 deletion Chromosome 1q21.1 duplication Chromosome 1q41-q42 deletion Chromosome 22q11.2 deletion Chromosome 22q11.2 microduplication Chromosome 22q13 duplication Chromosome 2p12-p11.2 deletion Chromosome 2p16.1-p15 deletion Chromosome 2q31.1 duplication Chromosome 2q31.2 deletion Chromosome 2q37 deletion Chromosome 3q13.31 deletion Chromosome 3q29 microdeletion Chromosome 3q29 microduplication Chromosome 4q21 deletion Chromosome 4q32.1-q32.2 triplication Chromosome 5p13 duplication Chromosome 5q12 deletion Chromosome 5q14.3 deletion Chromosome 6pter-p24 deletion Chromosome 6q11-q14 deletion Chromosome 6q25-q25 deletion Chromosome 7q11.23 deletion Chromosome 7q11.23 duplication Chromosome 8p11 myeloproliferative Chromosome 8q21.11 deletion Chromosome 9p deletion Chromosome Xp11.23-p11.22 duplication Chromosome Xp11.3 deletion Chromosome Xp21 deletion Chromosome Xq13 duplication Chromosome Xq26.3 duplication Chromosome Xq27.3-q28 duplication Chromosome Xq28 duplication Chudley-McCullough Chung-Jansen Cleft Cleft lip/palate-ectodermal dysplasia Cockayne Cocoon Coffin-Lowry Coffin-Siris Cohen Cohen-Gibson Cold-induced Cold-induced sweating Cole-Carpenter Combined Combined osteogenesis imperfecta and Ehlers-Danlos Cone-rod Cone-rod synaptic disorder Congenital Congenital anomalies of kidney and urinary tract Congenital heart defects and skeletal malformations Congenital short bowel Conotruncal Conotruncal anomaly face Contractures Contractures, pterygia, and spondylocarpostarsal fusion Contractures, pterygia, and spondylocarpotarsal fusion Cornelia Cornelia de Lange Costello Cousin Cowchock Cowden Craniofacial Craniofacial anomalies and anterior segment dysgenesis Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development Craniofacial-deafness-hand Craniofacioskeletal Crigler-Najjar Crohn Crouzon Culler-Jones Currarino Curry-Jones Cushing Cutaneous Cutaneous telangiectasia and cancer D3 DEEAH DEGCAGS DOORS Dalton Dandy-Walker De De Sanctis-Cacchione Delayed Delayed sleep phase Delpire-McNeill Dentici-Novelli Dentici-Novelli neurodevelopmental Denys-Drash Desanto-Shinawi DiGeorge Dias-Logan Diencephalic-mesencephalic Diencephalic-mesencephalic junction dysplasia Diets-Jongmans Diffuse Diffuse gastric and lobular breast cancer Donnai-Barrow Donohue Down Dravet Duane Duane retraction Duane-radial Duane-radial ray Dubin-Johnson Dursun Dworschak-Punetha Dworschak-Punetha neurodevelopmental E EDICT EEC EEG EMG ENDOVE ERG Ebstein Ectodermal Ectodermal dysplasia-syndactyly Ectodermal dysplasia/short stature Ectodermal dysplasia/skin fragility Ectrodactyly Ectrodactyly, ectodermal dysplasia, and cleft lip/palate Ehlers-Danlos Eiken Ellis-van Ellis-van Creveld Elsahy-Waters Emanuel Emberger Enhanced Enhanced S-cone Epidermolysis Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic Episodic Episodic ataxia/myokymia Episodic pain Escobar Even-plus Exfoliation FAV FG FILS FINCA Facial Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth Fallot Familial Familial apolipoprotein gene cluster deletion Familial cold autoinflammatory Familial cold inflammatory Fanconi Fanconi renotubular Fanconi-Bickel Faundes-Banka Feingold Ferguson-Bonni Ferguson-Bonni neurodevelopmental Filippi Floating-Harbor Focal Focal segmental glomerulosclerosis and neurodevelopmental Fontaine Fontaine progeroid Forsythe-Wakeling Fragile Fragile X Fragile X tremor/ataxia Frank-ter Frank-ter Haar Fraser Frasier Frias Fuhrmann G GAND GAPO GH GLOW GLUT1 GLUT1 deficiency GRACILE Gabriele-de Gabriele-de Vries Galloway-Mowat Gardner Gastrointestinal Gastrointestinal defects and immunodeficiency Gastrointestinal stromal tumor/GIST-plus Genitopatellar Genitourinary Genitourinary and/or/brain malformation Ghosal Ghosal hematodiaphyseal Gilbert Gilles Gilles de la Tourette Gillespie Gillessen-Kaesbach-Nishimura Gitelman Glass Goeminne Goeminne TKCR Goldberg-Shprintzen Goldberg-Shprintzen megacolon Grange Gray Gray platelet Greig Greig cephalopolysyndactyly Griscelli Groupe Gustavson Guttmacher HARP HELIX HELLP Haim-Munk Hajdu-Cheney Halperin-Birk Hamamy Hand-foot-uterus Hao-Fountain Hardikar Harel-Yoon Hartsfield Hay-Wells Heart Heart and brain malformation Heart-hand Heimler Helsmoortel-van Helsmoortel-van der Aa Hemolytic Hemolytic uremic Hengel-Maroofian-Schols Hennekam Hennekam lymphangiectasia-lymphedema Hermansky-Pudlak Heyn-Sproul-Jackson Hiatt-Neu-Cooper Hiatt-Neu-Cooper neurodevelopmental Hirschsprung Histiocytosis-lymphadenopathy Histiocytosis-lymphadenopathy plus Hodgkin Holt-Oram Huriez Hyaline Hyaline fibromatosis Hydrolethalus Hyper-IgD Hyper-IgE Hyper-IgE recurrent infection Hypereosinophilic Hyperferritinemia-cataract Hyperimmunoglobulin Hyperimmunoglobulin G1 Hyperinsulinism-hyperammonemia Hyperornithinemia-hyperammonemia-homocitrullinemia Hyperparathyroidism-jaw Hyperparathyroidism-jaw tumor Hyperphosphatasia Hyperphosphatasia with impaired intellectual development Hypersensitivity Hypertension Hypertension and brachydactyly Hypertrichotic Hypertrichotic osteochondrodysplasia (Cantu Hypocalcemia Hypocalcemia, autosomal dominant, with Bartter Hypogonadotropic Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann Hypoparathyroidism-retardation-dysmorphism Hypoplastic Hypoplastic left heart Hypotonia Hypotonia, ataxia, and delayed development Hypotonia, ataxia, developmental delay, and tooth enamel defect Hypotonia-cystinuria Hypotrichosis-lymphedema-telangiectasia Hypotrichosis-lymphedema-telangiectasia-renal Hypotrichosis-lymphedema-telangiectasia-renal defect Hz I IFAP II III IMAGE IMAGE-I IRM IV IVIC IX Ichthyosis Ichthyosis prematurity Ichthyosis, follicular, with atrichia and photophobia IgE IgG IgM Imagawa-Matsumoto Imerslund-Grasbeck Immune Immune dysregulation and systemic hyperinflammation Immunodeficiency-centromeric Immunodeficiency-centromeric instability-facial anomalies Infantile Infantile liver failure Intellectual Intellectual disability and myopathy Intellectual disability-hypotonic facies Intestinal Intestinal dysmotility Ischiocoxopodopatellar Jaberi-Elahi Jackson-Weiss Jacobsen Jalili Jansen Jansen de Vries Jawad Jervell Jervell and Lange-Nielsen Johanson-Blizzard Joubert Juberg-Hayward Juvenile Juvenile polyposis/hereditary hemorrhagic telangiectasia KBG KINSSHIP Kabuki Kagami-Ogata Kahrizi Kaufman Kaufman oculocerebrofacial Kaya-Barakat-Masson Keipert Kenny-Caffey Keppen-Lubinsky Keratitis-ichthyosis-deafness Keratoderma-ichthyosis-deafness Keutel Khan-Khan-Katsanis Kilquist Kindler King-Denborough Kleefstra Klippel-Feil Klippel-Trenaunay-Weber Knobloch Kohlschutter-Tonz Kondoh Koolen-De Koolen-De Vries Kosaki Kosaki overgrowth Kowarski Kufor-Rakeb Kury-Isidor LADD LCR LEOPARD LIG4 Lamb-Shaffer Langerhans Larsen Larsen-like Lateral Lateral meningocele Laurence-Moon Laurin-Sandrow Leber Legius Leri Leri pleonosteosis chromosome duplication Lesch-Nyhan Lessel-Kreienkamp Lessel-Kubisch Lethal Lethal congenital contractural Lethal congenital contracture Leukemia Leukemia, megakaryoblastic, with or without Down Leukemia, transient, of Down Leukoencephalopathy Leukoencephalopathy, developmental delay, and episodic neurologic regression Leukoencephalopathy, motor delay, spasticity, and dysarthria Levy-Shanske Li-Campeau Li-Fraumeni Li-Ghorgani-Weisz-Hubshman Liang-Wang Liberfarb Lichtenstein-Knorr Liddle Liebenberg Limb-mammary Loeys-Dietz Long Long QT Lopes-Maciel-Rodan Lowe Lowry-Wood Lujan-Fryns Lung Lung disease, immunodeficiency, and chromosome breakage Luo-Schoch-Yamamoto Luscan-Lumish Lymphedema-distichiasis Lymphoproliferative Lynch MASA MASS MEDNIK MEHMO MEND MIRAGE Macrocephaly/autism Macrocephaly/megalencephaly Majeed Malan Malouf Mammary-digital-nail Mandibular Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy Mandibuloacral Mandibuloacral dysplasia progeroid Manitoba Manitoba oculotrichoanal Marbach-Rustad Marbach-Rustad progeroid Marbach-Schaaf Marbach-Schaaf neurodevelopmental Marden-Walker Marfan Marfan lipodystrophy Marinesco-Sjogren Marshall Marshall-Smith Marsili Martin-Probst Martsolf Mast McCune-Albright McKusick-Kaufman McLeod Meacham Meckel Medulloblastoma Medulloblastoma predisposition Meester-Loeys Mega-corpus-callosum Megacystis-microcolon-intestinal Megacystis-microcolon-intestinal hypoperistalsis Megalencephaly-capillary Megalencephaly-capillary malformation-polymicrogyria Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Meier-Gorlin Melanocytic Melanocytic nevus Melanoma Melanoma and neural system tumor Melanoma-pancreatic Melanoma-pancreatic cancer Melkersson-Rosenthal Melnick-Needles Menke-Hennekam Mesomelia-synostoses Metabolic Microcephaly Microcephaly, developmental delay, and brittle hair Microcephaly, epilepsy, and diabetes Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia Microcephaly-capillary Microcephaly-capillary malformation Microcephaly-micromelia Microphthalmia/coloboma Microphthalmia/coloboma and skeletal dysplasia Miller Miller-Dieker Miller-Dieker lissencephaly Mismatch Mismatch repair cancer Mitchell Mitchell-Riley Mitochondrial Mitochondrial DNA depletion Mitochondrial recessive ataxia Moebius Mohr-Tranebjaerg Monosomy Monosomy 7 myelodysplasia and leukemia Morgagni-Stewart-Morel Mosaic Mosaic variegated aneuploidy Mowat-Wilson Muckle-Wells Mucopolysaccharidosis-plus Muenke Muir-Torre Mulchandani-Bhoj-Conlin Mullegama-Klein-Martinez Multicentric Multicentric carpotarsal osteolysis Multiple Multiple congenital anomalies-hypotonia-seizures Multiple congenital anomalies-neurodevelopmental Multiple mitochondrial dysfunctions Multiple pterygium Multiple synostoses Multisystemic Multisystemic smooth muscle dysfunction Mungan Muscular Muscular dystrophy, congenital hearing loss, and ovarian insufficiency Myasthenic Myelodysplasia Myelodysplastic Myhre Myoectodermal Myoectodermal gonadal dysgenesis Ménétrier NESCAV NOR NOR polyagglutination Nabais Nabais Sa-de Vries Nablus Nablus mask-like facial Naegeli-Franceschetti-Jadassohn Nail-patella Nance-Horan Neisseria Nephrogenic Nephrotic Nestor-Guillermo Nestor-Guillermo progeria Netherton Neu-Laxova Neurocardiofaciodigital Neurodevelopmental Neurodevelopmental, jaw, eye, and digital Neurodevelopmental-craniofacial Neurofacioskeletal Neurofibromatosis-Noonan Neuroocular Neurooculocardiogenitourinary Nicolaides-Baraitser Nijmegen Nijmegen breakage Nikolsky Nivelon-Nivelon-Mabille Nizon-Isidor Noonan O'Donnell-Luria-Rodan Occipital Occipital horn Oculoauricular Oculoectodermal Oculogastrointestinal Oculogastrointestinal neurodevelopmental Oculoskeletodental Ogden Ohdo Okur-Chung Okur-Chung neurodevelopmental Oligodontia-colorectal Oligodontia-colorectal cancer Oliver-McFarlane Olmsted Omenn Onychodysplasia Onychodystrophy Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures Opitz Opitz GBBB Opitz-Kaveggia Optic Optic atrophy plus Orofaciodigital Osteootohepatoenteric Osteoporosis-pseudoglioma Ota Otodental Otodental dysplasia chromosome deletion Otofaciocervical Otopalatodigital Ovarian Ovarian hyperstimulation PCWH PEA PEHO PERCHING PEV Paganini-Miozzo Pallister-Hall Pallister-Hall-like Pallister-Killian Panic Panic disorder Papillon-Lefevre Papillorenal Parenti-Mignot Parenti-Mignot neurodevelopmental Partington Pectus Peeling Peeling skin Pelger-Huët Pendred Periodic Periodic fever, immunodeficiency, and thrombocytopenia Perlman Perrault Perry Persistent Persistent Mullerian duct Peters-plus Pettigrew Peutz-Jeghers Pfeiffer Phelan-McDermid Pick Pierpont Pierre Pierre Robin Pierson Pigmentosum Pilarowski-Bjornsson Pitt-Hopkins Pitt-Hopkins like Pitt-Hopkins-like Poirier-Bienvenu Poirier-Bienvenu neurodevelopmental Polycystic Polycystic ovary Polyendocrine-polyneuropathy Polyposis Pontocerebellar Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency Popliteal Popliteal pterygium Poretti-Boltshauser Potocki-Lupski Potocki-Shaffer Prader-Willi Premature Premature aging Prieto Primordial Primordial dwarfism-immunodeficiency-lipodystrophy Primrose Proliferative Proliferative vasculopathy and hydranencephaly-hydrocephaly Proteasome-associated Proteasome-associated autoinflammatory Proteus Proud Prune Prune belly Pseudo-TORCH Quincke RAPADILINO RAS-associated RAS-associated autoimmune lymphoproliferative RHYNS RIDDLE ROSAH Rabin-Pappas Rabson-Mendenhall Radiation Radiation sensitivity/chromosome instability Radio-Tartaglia Rafiq Rahman Raine Rapp-Hodgkin Rauch-Steindl Raynaud-Claes Renal Renal cysts and diabetes Renpenning Restless Restless legs Retinal Retinal disease in Usher Retinal dystrophy, iris coloboma, and comedogenic acne Retinal dystrophy, juvenile cataracts, and short stature Rett Revesz Reynolds Rhabdoid Rhabdoid tumor predisposition Rieger Rigidity Rigidity and multifocal seizure Ring Ring chromosome 14 Ritscher-Schinzel Roberts-SC Roberts-SC phocomelia Robinow Robinow-Sorauf Roifman Roifman-Chitayat Rothmund-Thomson Roussy-Levy Rubinstein-Taybi Ruijs-Aalfs S-sulfocystéine SAOS SBBYSS SERKAL SESAME SHORT SIMHA SLA SNC SNP STAR Saethre-Chotzen Salt Salt and pepper developmental regression Sandestig-Stefanova Saul-Wilson Scalp-ear-nipple Scanner Scapuloperoneal Schaaf-Yang Schimmelpenning-Feuerstein-Mims Schinzel-Giedion Schinzel-Giedion midface retraction Schopf-Schulz-Passarge Schuurs-Hoeijmakers Schwartz-Jampel Scott Sd(a) Sd(a) polyagglutination Seckel Segawa Seizures Seizures, cortical blindness, microcephaly Seizures, scoliosis, and macrocephaly Sengers Senior-Loken Sessile Sessile serrated polyposis cancer Sezary Shaheen Shashi-Pena Short Short QT Short stature-micrognathia Shprintzen-Goldberg Shukla-Vernon Shwachman-Diamond Sick Sick sinus Siddiqi Sifrim-Hitz-Weiss Silver Silver spastic paraplegia Silver-Russell Simpson-Golabi-Behmel Singleton-Merten Sjogren-Larsson Skin Skin fragility-woolly hair Skraban-Deardorff Smith-Kingsmore Smith-Lemli-Opitz Smith-Magenis Sneddon Snijders Snijders Blok-Campeau Snijders Blok-Fisher Sotos Split-hand/foot Split-hand/foot malformation 3, gene duplication Spondylocarpotarsal Spondylocarpotarsal synostosis Spondyloocular Sprengel Stankiewicz-Isidor Steel Stevens-Johnson Stickler Stiff Stiff skin Stormorken Stromme Structural Structural heart defects and renal anomalies Sturge-Weber Stuve-Wiedemann Sudden Sudden infant death Sudden infant death with dysgenesis of the testes Suleiman-El-Hattab Supernumerary Supernumerary der(22)t(8-22) Sweeney-Cox TARP TSH Takenouchi-Kosaki Tarsal-carpal Tarsal-carpal coalition Tatton-Brown-Rahman Teebi Teebi hypertelorism Temple Temple-Baraitser Temtamy Temtamy preaxial brachydactyly Tenorio Tessadori-van Tessadori-van Haaften neurodevelopmental Tetra-amelia Tetraamelia Thauvin-Robinet-Faivre Thiamine Thiamine metabolism dysfunction Thiamine-responsive Thiamine-responsive megaloblastic anemia Thoracoabdominal Thrombocytopenia-absent Thrombocytopenia-absent radius Tietz Tietz albinism-deafness Timothy Tn Tn polyagglutination Tolchin-Le Tolchin-Le Caignec Tonne-Kalscheuer Tourette Townes-Brocks Townes-Brocks branchiootorenal-like Traboulsi Treacher Treacher Collins Treacher-Collins Trichodontoosseous Trichohepatoenteric Trichohepatoneurodevelopmental Trichorhinophalangeal Triokinase Triokinase and FMN cyclase deficiency Triphalangeal Triphalangeal thumb-polysyndactyly Trismus-pseudocamptodactyly Troyer Tukel Tumor Tumor predisposition Turner Turnpenny-Fry UV-sensitive Ulnar-mammary Uncombable Uncombable hair Urofacial Uruguay Uruguay faciocardiomusculoskeletal Usher Usmani-Riazuddin VBIH VEXAS VII VIII VISS Van Van Esch-O'Driscoll Van Maldergem Van den Ende-Gupta Vasculitis Vasculitis, autoinflammation, immunodeficiency, and hematologic defects Velocardiofacial Ventricular Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency Verheij Vertebral Vertebral, cardiac, renal, and limb defects Ververi-Brady Vici Vissers-Bodmer Vohwinkel Vulto-van Vulto-van Silfout-de Vries WAGRO WHIM Waardenburg Wagner Waisman Warburg Warburg micro Warburg-Cinotti Warsaw Warsaw breakage Watson Weaver Webb-Dattani Weill-Marchesani Weill-Marchesani 4 Weiss-Kruszka Werner West White-Kernohan White-Sutton Wieacker-Wolff Wiedemann-Rautenstrauch Wiedemann-Steiner Williams Williams-Beuren Wilms Wilms tumor, aniridia, genitourinary anomalies and mental retardation Wilson-Turner Winchester Wiskott-Aldrich Witteveen-Kolk Wolcott-Rallison Wolf-Hirschhorn Wolff-Parkinson-White Wolfram Wolfram-like Woodhouse-Sakati Woods-Black-Norbury Wrinkly Wrinkly skin XFE XFE progeroid XI XII XII:c Xeroderma Xeroderma pigmentosum, group G/Cockayne Xeroderma pigmentosum, type F/Cockayne Xia-Gibbs Xp11.22 Xp11.22 microduplication Xq21 Xq21 deletion Xq25 Xq25 duplication Yao Yoon-Bellen Yoon-Bellen neurodevelopmental You-Hoover-Fong Yuan-Harel-Lupski Yunis-Varon ZTTK Zaki Zimmermann-Laband a1 a1 and b a10 a3 a4 aarskog-scott abiotrophie abnormal abnormal hair abruzzo-erickson acampomelic campomelic acanthosis accelerated acetazolamide-responsive acetyl-coa achondrogenesis ib aciduria with acne acral punctate acrocapitofemoral acrochordon préauriculaire acrochordon périauriculaire acrodermatitis acrodysostosis acrofacial dysostosis acromegaloid acromicric acropectoral acropectorovertebral dysplasia acth-independent macronodular acth-secreting acute acute febrile acute lymphoblastic acute lymphoblastic leukemia acute myeloid acute nonlymphocytic acute promyelocytic acyl-coa acétabula adams-oliver adductor paralysis adelaide type adenine dinucleotide synthetase deficiency adenine phosphoribosyltransferase adenomatous polyposis adenosine adenosine deaminase adenosyltransferase i/iii adenylosuccinase adiponectin adrenal adenoma somatic adrenal hyperplasia adrenal hypoplasia adrenal insufficiency adrenocorticotropic adult adult onset adult-onset agammaglobulinemia agammaglobulinemia 8b agammaglobulinémie age-related cortical susceptibility to age-related hearing agenesis of aggrecan agnathia-otocephaly aiblesse aica-ribosiduria aicardi ain-naz akinesia al kaissi al-gazali al-gazali-bakalinova al-raqad alagille albinism with sensorineural deafness alcohol dependence alcohol-induced alexander disease alkaline alkuraya-kucinskas allan-herndon-dudley allergic allo-immunisation fœtomaternelle alopecia alopecia areata alpha-b crystallin-related alpha-fetoprotein alpha-methylacetoacetic aciduria alpha-methylacyl-coa racemase alpha-thalassemia myelodysplasia alpha-thalassemia/impaired alpha-thalassemia/mental retardation alport alstrom alternating hemiplegia alternating hemiplegia of childhood alveolar capillary dysplasia with misalignment alzahrani-kuwahara alzheimer disease- ambras amelogenesis amelogenesis imperfecta and skeletal amincissement choriorétinien amino-acidurie aminoacidurie aminoacidurie généralisée aminoacylase amish amorph amyotrophic lateral amyotrophic lateral sclerosis amyotrophic lateral sclerosis-parkinsonism/dementia anauxetic dysplasia and and acne and autistic features and autoimmunity and congenital heart defects and diabetes and enteropathy and episodic and genital and immunodeficiency and impaired and limb and myopia and nail and neurodegeneration and palmoplantar keratoderma and respiratory insufficiency and sclerosing and spasticity and symptomatic and testicular androgen anemie aneurysmal bone cysts angelman angiomatoid angiopathic angiotensin i-converting enzyme anisomastia ankyrin-b-related anneau de kayser-fleischer annular epidermolytic anomalie choriorétinienne anophtalmie anterior maxillary antibody deficiency antihélix anormal antithrombin iii antitragus antley-bixler aortic aortic valve disease apert aplasia cutis congenita aplastic apolipoprotein apolipoprotein c-iii apolipoprotein gene cluster deletion arboleda-tham argininosuccinic aciduria armfield arnold-chiari aromatic l-amino acid decarboxylase arrhythmogenic right ventricular arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia with mild palmoplantar keratoderma and woolly hair arriérations mentales arthrite juvénile arthrochalasia arthrogrypose ary-épiglottiques aréflexie aspartate aminotransferase serum level of asperger aspirin-induced asthma asthma-related atad3 gene cluster ataxia-pancytopenia ataxia-telangiectasia ataxia-telangiectasia-like disorder atelis athabascan atresie biliaire atrioventricular septal atrioventricular septal defect atrophie choriorétinienne attenuated auditory auditory canal auditory neuropathy and optic auriculaire hypoplasique/petit auriculocondylar autoinflammatory autoinflammatory-pancytopenia avellino axillary b bachmann-bupp baker-gordon baller-gerold band bardet-biedl bart bart-pumphrey basan basilicata-akhtar bazex beaulieu-boycott-innes beck-fahrner becker beckwith-wiedemann behavioral abnormalities and neuropsychiatric bent bone dysplasia benzene toxicity bernard-soulier beta-2-adrenoreceptor bethlem myopathy bietti crystalline corneoretinal bilateral bilateral frontoparietal bilateral perisylvian biliary cirrhosis billuart biotin-responsive biotinidase deficiency birbeck birk-landau-perez bjornstad bladder bladder cancer blastome pleuropulmonaire blau blepharocheilodontic blomstrand bmiq11 bombay bone marrow failure and diabetes mellitus boomerang bor-duane hydrocephalus borjeson-forssman-lehmann bornholm eye disease borochowitz-cormier-daire bosma arhinia microphthalmia bothnia retinal boucher-neuhauser brachydactyly-syndactyly brainstem dysgenesis branched-chain keto acid dehydrogenase kinase branchiootic breast breast cancer breast-ovarian brittle cornea brody brooke-spiegler brown-vialetto-van laere bruck brunet-wagner neurodevelopmental brunner buratti-harel burn scar-related burst-suppression buruli buschke-ollendorff butterfly-shaped butyrylcholinesterase deficiency c1s c2 c7 deficiency cabezas caffey disease calcanéum calcific campomelic camptodactylie camptodactylie du majeur camptodactylie métacarpophalangienne camptodactylie partielle camptodactylie sévère camptodactyly camptodactyly-arthropathy-coxa vara-pericarditis camptothecin-resistant canal atrio-ventriculaire canal atrio-ventriculaire commun canal atrioventriculaire canal auriculoventriculaire canal carcinoma canal lacrymo-nasal canal vertébral canavan disease cap myopathy carbamazepine-induced carbamoylphosphate synthetase i deficiency carboxypeptidase carcinoma cardiac cardiac arrhythmia cardiac arrhythmias cardiac valvular cardiac valvular dysplasia cardiac-urogenital cardiofacioneurodevelopmental carey-fineman-ziter carnitine-acylcarnitine carotid intimal medial carotid intimal medial thickness carpal carpus curvus cataract catecholaminergic catel-manzke catifa catshl cayler cardiofacial cbla cblb cblf cblj cdags cebalid cenani-lenz syndactyly centronuclear centronuclear myopathy centrotemporal epilepsy cerebellar cerebellar ataxia cerebellar ataxia brain abnormalities and cardiac cerebellar ataxia deafness cerebellar ataxia neuropathy cerebellar atrophy with seizures and cerebellar hypoplasia cerebellar hypoplasia/atrophy epilepsy cerebral cerebral arteriopathy with subcortical infarcts and cerebral creatine deficiency cerebral dysgenesis cerebral-cerebellar-coloboma cerebrocostomandibular cerebrooculofacioskeletal cerebroretinal microangiopathy with calcifications and cerebroretinal microangiopathy with calcifications and cysts cerebrovascular cervical carcinoma chambre antérieure chanarin-dorfman chand charcot-marie-tooth charcot-marie-tooth disease charcot-marie-tooth disease axonal charcot-marie-tooth disease foot charles osborne charlevoix-saguenay chediak-higashi cheyne-stokes chilblain childhood childhood-onset childhood-onset stress-induced chitotriosidase cholestasis-lymphedema cholesteryl chondrodysplasie métaphysaire chopra-amiel-gordon chops choroid plexus choréo-athetoïdes choréo-athétose christ-siemens-touraine christianson chromosome 6pter-p24 deletion chung-jansen ciliary cinca cincinnati cisplatin-induced ck claes-jensen clapo claude bernard-horner cleft palate proliferative retinopathy and developmental cleft palate with clinodactylie clouston clumped clumsy cockayne cofactor ii cohen-gibson col du fémur colchicine colobome choriorétinien colobome choroïdien colobome de la paupière colobome de la paupière inférieure colobome irien colobome oculaire combined combined immunodeficiency and megaloblastic anemia with or combined immunodeficiency with microcephaly growth retardation compartement stéréotypique compton-north congenital congenital amaurosis congenital amegakaryocytic congenital anomalies-hypotonia-seizures congenital anomalies-neurodevelopmental congenital bilateral congenital cataract congenital cataracts congenital generalized congenital heart defects congenital myopathy with excess of muscle spindles congenital nuclear congenital short bowel congenital stationary congenital with brain and eye congenital with impaired congenital with inner ear congenital with structured cores congenital without impaired conotruncal anomaly conotruncal heart contractural arachnodactyly congenital coralliform corne ventrale cornelia de lange cornée coronary artery coronary artery disease cortex cérébral petit costo-chondrales coumarin resistance cpt ii cranioectodermal dysplasia craniofacial craniofacial-deafness-hand craniofacial-skeletal-dermatologic craniolenticulosutural craniometaphyseal craniosynostosis with radiohumeral creatine phosphokinase creutzfeldt-jakob creutzfeldt-jakob disease crigler-najjar crohn crohn disease crohn disease-associated growth crouzon cryohydrocytosis with neurologic crâniosynostose crâniosynostose prématurée culler-jones currarino curry-jones curth-macklin cystic fibrosis cystoid cysts 2a cytochrome-c oxydase czech céphaline d-glyceric aciduria dandy-walker danon darier davignon-chauveau ddb-negative subtype deafness autosomal recessive debrisoquine decreased urinary activity defaillance cardiaque dehydrated hereditary delpire-mcneill delta-beta thalassemia dentatorubral-pallidoluysian dentin dentinogenesis denys-drash dermatite exfoliatrice dermite desanto-shinawi desbuquois dysplasia desmoid disease developmental delay developmental delay with short stature di rocco diabète juvénile diamond blackfan diamond-blackfan diamètre antéro-postérieur diaphyseal medullary stenosis with malignant fibrous digenic digenic form digenic gjb2/ dihydrolipoamide dehydrogenase dihydropyrimidine dehydrogenase dilated 1b dilated cardiomyopathy with woolly hair dimethylglycine dehydrogenase dimélie fibulaire disordered disordered steroidogenesis disseminated superficial actinic distichiasis dminnution donnai-barrow donohue dowling-degos doyne honeycomb degeneration of retina dravet drug drug-induced liver injury dubin-johnson ductus dursun dyschromatosis dyskeratosis dysostose mandibulo-faciale dysostosis dysostosis multiplex dysplasia progeroid dysplasia with congenital dyssegmental dystonia dystonia-parkinsonism dystrophie choriorétinienne dysérythropoïèse congénitale dégénérescence choriorétinienne progressive e55 east texas ectodermal ectodermal dysplasia ectodermal dysplasia-syndactyly ectodermal dysplasia/short stature ectopia lentis edict eeg anormal electromyogramme anormal electrorétinogramme ellis-van creveld emg emphysema due to aat enamel-renal encephalopathy encephalopathy with neuropsychiatric features encéphalographie gazeuse endocrine-cerebroosteodysplasia endothelial enlarged vestibular enlarged vestibular aqueduct epicanthus epidermodysplasia epidermolytic hyperkeratosis epilépsie epiphyses episodic episodic kinesigenic dyskinesia erg aboli erg anormal erythrokeratodermia variabilis escobar esophageal estrogen ethylmalonic ewing exocrine pancreatic insufficiency extraoral halitosis exudative vitreoretinopathy f95 - tics fabry disease facial paresis facioscapulohumeral factor xi factor xiiia fanconi fanconi renotubular fascioscapulohumeral fast-channel fatty liver acute faundes-banka fazio-londe feingold female-limited female-specific] fente labio-palatine fente palatine submuqueuse fente palatine/labiale ferguson-bonni neurodevelopmental ferritinémie fetal fibrocalculous pancreatic fibromuscular fibrosis lung fibula rudimentaire finca finkel finnish fissure palatine fleck fleck retina fletcher factor follicular lymphoma fontaine progeroid fosse postérieure frank-ter haar fraser frasier freeman-sheldon french-canadian frias friedreich friedreich ataxia friedreich ataxia with retained frontotemporal frontotemporal dementia and/or frontotemporal lobar degeneration frontotemporal lobar degeneration with ubiquitin-positive fuchs fuhrmann fumarase deficiency fundus fémur galactokinase deficiency with galactosemia iv gand gapo gastric gastric adenocarcinoma and proximal polyposis of the gastrointestinale gelatinous drop-like geleophysic dysplasia geniospasm geroderma osteodysplasticum gerstmann-straussler disease gh-secreting giant axonal gilles de la tourette gillessen-kaesbach-nishimura gitelman glaucoma 1a glaucoma 1b glaucoma 1c glaucoma 1d primary open angle glaucoma 3a globoside glomerulopathy with fibronectin glomuvenous glomérulopathie glucocorticoid glucocorticoid-remediable glutaric acidemia glutaric acidemia iia glutaric aciduria iii glutathione synthetase glycerol glycine glycine encephalopathy with normal serum glycoprotein iv glycosylphosphatidylinositol glycosylphosphatidylinositol biosynthesis defect glyoxalase ii glénoïde hypoplasique goeminne tkcr goldberg-shprintzen megacolon gpapp graft-versus-host granulomatosis with polyangiitis gray platelet greenberg skeletal greig cephalopolysyndactyly griscelli guttmacher hackman-di donato hailey-hailey haim-munk hair hajdu-cheney halperin-birk hamamy hamartomas of tongue hardikar harel-yoon harp hartnup hartsfield hashimoto thyroiditis hearing heart block heimler helicobacter helsmoortel-van der aa hemihypertrophy hemolytic anemia hemolytic uremic hemophagocytic lymphohistiocytosis hemophilia hemophilia b hemorrhagic hemorrhagic diathesis hemorrhagic telangiectasia hengel-maroofian-schols hennekam lymphangiectasia-lymphedema hepatic hepatic adenoma somatic hepatic fibrosis susceptibility hepatocellular hepatorenocardiac degenerative hereditary hereditary benign hereditary benign intraepithelial hereditary congenital hereditary fibrosing hereditary hemorrhagic hereditary motor hereditary neuralgic hereditary sensory herpes-specific heyn-sproul-jackson hiatt-neu-cooper neurodevelopmental high hirschsprung hispanic gamma-delta-beta hiv hiv/aids hodgkin holocarboxylase synthetase deficiency holoprosencephaly holt-oram homocystinuria due to mthfr homocystinuria-megaloblastic homocystinurie hsd10 humerofemoral hypoplasia with radiotibial ray hunter-thompson huntington huriez hutchinson-gilford hyaline fibromatosis hydatidiform hydranencephaly with abnormal genitalia hydro-uretère hydrocephalus with congenital hydrocephalus with hirschsprung hydrolethalus hygrome kystique hyperammoniémie légère hyperekplexie héréditaire hyperferritinemia-cataract hyperhidrosis palmaris hyperimmunoglobulin g1 hyperinsulinism-hyperammonemia hyperkeratotic cutaneous capillary-venous hypermethioninemia with deficiency of hyperostosis hyperparathyroidism-jaw hyperphosphatasia with impaired intellectual development hyperplasia hyperplastic primary hyperréflexie hypersensitivity hypertonie hypertrichosis hypertrichotic osteochondrodysplasia hypertriglyceridemia hypertrophic hypocalciuric hypofonctionnement surrenal hypogonadotropic hypogonadism hypogonadotropic hypogonadism with hypogonadotropic hypogonadism with or hypogonadotropic hypogonadism with or without anosmia hypogonadotropic hypogonadism without hypohidrose hypohidrotic/hair/nail hypohidrotic/hair/tooth hypohidrotic/hair/tooth/nail hypokalemic tubulopathy and hypomimie hypomyelinating hypopigmentation hypopigmentation rétienne hypoplasie hypoplasie foetale hypoplasie glénoïdienne hypoplasie maxillaire légère hypoplasie maxillozygomatique hypoplasie médullosurrénalienne hypoplasie odontoïde hypoplasie olivo-ponto-cérébelleuse hypoplasie pontocérébelleuse hypoplastic hypoplastic left heart hypoplastic or aplastic tibia with hyporéflexie hyporéflexie/aréflexie hypotonia-cystinuria hypotrichosis-lymphedema-telangiectasia hypotrichosis-lymphedema-telangiectasia-renal defect ichthyosis ichthyosis prematurity igf1 igg2 ii iiic ikegawa imagawa-matsumoto imerslund-grasbeck immunodeficiency immunodeficiency 1a immunodeficiency 1b mycobacterial and viral immunodeficiency 3a with defective immunodeficiency 3b with defective immunodeficiency 3c with defective immunodeficiency 5a immunodeficiency 7a immunodeficiency 7b immunodeficiency and immunodeficiency and autoimmunity immunodeficiency and hyperinflammation immunodeficiency and hypertrophic immunodeficiency due to defect in immunodeficiency with immunodeficiency with autoimmunity and developmental immunodeficiency with hypogammaglobulinemia and immunodeficiency with pulmonary immunodeficiency with systemic immunodeficiency-centromeric instability-facial anomalies immunoglobulin immunoglobulin a deficiency immunoskeletal dysplasia with neurodevelopmental impaired impaired expressive language impaired intellectual impaired language and dysmorphic impaired language and gait impaired language epilepsy impaired responsiveness to impaired speech impdh2 infantile cerebellar-retinal degeneration infantile onset infantile-onset infantile-onset multisystem infection-induced inflammatory inhibitor deficiency insulin resistance insulin resistance-related insulin-dependent insulin-dependent neonatal insulin-resistant interleukin- intervertebral intolerance intracranial berry intrahepatic intrapulmonaire récidivente isidor-toutain Iso Kikuchi isolated congenital isovaleric acidemia iv ivic jackson-weiss jacobsen james jansen de vries john-milton-hagen joubert juberg-hayward junctional 1a junctional 1b junctional 2a junctional 2b junctional 2c junctional 3a junctional 3b junctional 5a junctional 5b juvenile myelomonocytic juvenile myoclonic juvenile recurrent juvenile-onset k25 k42 k65 kaeser kallmann kantaputra type kanzaki keipert kenny-caffey keppen-lubinsky keratoconus keratoendothelitis fugax keratosis keutel khan-khan-katsanis kimberley kindler kininogen kininogène kleefstra klippel-feil klippel-trenaunay-weber knobloch knops kohlschutter-tonz kondoh kosaki overgrowth kowarski krabbe krakow kufor-rakeb kyphoscoliotic l-2-hydroxyglutaric aciduria l-ferritin l03 - phlegmon l50 l68 l83 laing lambert laron dwarfism laurence-moon laurin-sandrow lchad legg-calve-perthes legius lenz-majewski hyperostotic leri pleonosteosis lesch-nyhan lessel-kubisch lethal congenital lethal congenital contractural leucoplasie buccale leukocyte leukoencephalopathy with dystonia and motor leukoplasie levy-shanske lewy leyden-moebius li-campeau li-ghorgani-weisz-hubshman liang-wang liddle lig4 lipoma lipoprotein liposarcome myxoïde lipoyltransferase lissencephaly lissencephaly with cerebellar liver liver disease severe congenital lopes-maciel-rodan lowe lower extremity-predominant lowry-wood lumbar lung lung cancer lung disease luo-schoch-yamamoto lupus luscan-lumish luteinizing lutheran lymphangiectasie lymphangiectasie pulmonaire lymphangiome lymphatic lymphedema-distichiasis lymphoid hyperplasia and lynch lysinuric protein lysyl hydroxylase lèvre inférieure éversée légère splénomégalie léiomyome utérin m10 - goutte machado-joseph disease macrothrombocytopenia and granulocyte inclusions with or macular macular degeneration malan male male infertility malignant hyperthermia susceptibility mandibular mandibuloacral mandibulofacial dysostosis guion-almeida mandibulofacial dysostosis with manitoba mantle cell marbach-rustad progeroid marden-walker marfan marfan lipodystrophy marinesco-sjogren maroteaux-lamy marshall marshall-smith martin-probst masp2 mast maxillary mcardle disease mccune-albright meacham mean meconium meconium ileus in cystic mednik meesmann meesmann corneal meester-loeys megacystis-microcolon-intestinal hypoperistalsis megaloblastic meier-gorlin melanocytic melanoma-pancreatic melkersson-rosenthal melnick-needles mend menke-hennekam menton merkel merosin merosin-positive mesomelic dysplasia metacarpal 4- fusion metachromatic metatarsus adductus metatropic methionine adenosyltransferase methylmalonate semialdehyde dehydrogenase methylmalonic aciduria methylmalonic aciduria and homocysteinemia cblx methylmalonic aciduria and homocystinuria methylmalonic aciduria and homocystinuria cbld mevalonic aciduria microcephalic osteodysplastic microcephaly microcephaly-micromelia microcoria micrognathie microsope microtia with nasolacrimal duct imperforation midface hypoplasia miller miller-dieker lissencephaly mineralocorticoid minicore myopathy with external missouri mitchell mitchell-riley moebius mohr-tranebjaerg molybdenum cofactor deficiency molybdenum cofactor deficiency b molybdenum cofactor deficiency c monocarboxylate monochromatisme morgagni-stewart-morel mowat-wilson mucoepithelial mucopolysaccharidosis mucopolysaccharidosis ih/s mucopolysaccharidosis ii mucopolysaccharidosis is mucopolysaccharidosis iva mucopolysaccharidosis vii muir-torre mulchandani-bhoj-conlin mullerian duct multicentric carpotarsal osteolysis multicentric osteolysis multinucleated multivitamin transporter mungan murk jansen musculocontractural musculoskeletal defects myasthenia gravis with thymus hyperplasia myasthenic myeloperoxidase deficiency myoclonic 2a myoclonic-atonic myoectodermal gonadal dysgenesis myofibrillar myopathy myogenic myokymies faciales myopathy myopathy with myopathy with early-onset paget disease with or without frontotemporal myopathy with early-onset paget disease without frontotemporal myopathy with fiber-type myopathy with lactic myopathy with lactic acidosis hereditary myopathy with myalgia myopia myopia- myopic myosin myotonia myotonia congenita myotonia congenita atypical myotonic myxoedème myxoid liposarcoma myélodysplasie hypoplasique méga-uretère mélanocytose métacarpien métacarpiens courts métaphyse tibiale métaphyse ulnaire métaphyses humérales metaphysal n18 nabais nablus mask-like facial nail-patella nanophthalmos nanophthalmos- narines antéversées narines hypoplasiques naxos disease nemaline myopathy neonatal neonatal severe nephropathy nestor-guillermo progeria neu-laxova neuroblastoma with hirschsprung neurocardiofaciodigital neurocognitive phenotype neurocutaneous melanosis neurodevelopmental neurodevelopmental delay neurodevelopmental-craniofacial neurofibromatosis-noonan neurogenic neurologic neurooculocardiogenitourinary neurosensoriel congénital neutrophilic dermatosis nevi flammei newfoundland rod-cone nicolaides-baraitser nijmegen breakage nivelon-nivelon-mabille nizon-isidor nonaka nonerythroid nongoitrous nonimmune chronic noninsulin-dependent noninsulin-dependent late nonspecific noonan nor polyagglutination norman-roberts north carolina northern epilepsy nystagmus nævus simplex néphrolithiase oxalique néphrolithiase oxalo-calcique néphrolithiase oxalocalcique néphronophthise juvénile occiput ocular oculocutaneous oculogastrointestinal neurodevelopmental oculomotor apraxia odontochondrodysplasia of pregnancy ogden oguchi ohdo okt4 epitope okur-chung neurodevelopmental oligodontia-colorectal cancer oliver-mcfarlane olmsted omphalocele onychodysplasie opitz-kaveggia ornithine transcarbamylase deficiency orofaciodigital osteogenesis osteoglophonic osteosclerotic metaphyseal otopalatodigital otospondylomegaepiphyseal ovarian ovarian carcinoma ovarian dysgenesis oxoglutarate dehydrogenase oxycéphalie p1pk pachyonychia congenita paganini-miozzo palais haut palais hypoplasique pallister-hall pallister-hall-like palmo-plantaire palmoplantar palmoplantar hyperkeratosis palmoplantar hyperkeratosis with squamous cell palmoplantar keratoderma and woolly hair palmoplantar keratoderma nagashima palmoplantar keratoderma with congenital pancreatic pancreatic agenesis pancreatic agenesis and congenital heart defects pancreatic and cerebellar pancreatic cancer pancreatic carcinoma somatic pancreatic lipase papillon-lefevre papillorenal paragangliomas paramyotonia congenita paraparésie parastremmatic dwarfism parathyroid parathyroid adenoma parathyroid adenoma with cystic parenti-mignot neurodevelopmental parietal foramina parietal foramina with cleidocranial parkinson parkinson disease parkinsonism-dystonia infantile paroxysmal extreme pain paroxysmal nocturnal hemoglobinuria paroxysmal nonkinesigenic paroxysmal nonkinesigenic dyskinesia pcwh peho pelger-huet pelger-huët pelizaeus-merzbacher pelvic organ pendred penttinen pepck deficiency perinatal lethal periodontitis peripheral peripheral arterial peripheral neuropathy with periventricular heterotopia with microcephaly periventricular nodular heterotopia perlman peroxisomal acyl-coa oxidase peroxisomal fatty acyl-coa peroxisome biogenesis peroxisome biogenesis disorder 0a peroxisome biogenesis disorder 1a peroxisome biogenesis disorder 2a peroxisome biogenesis disorder 3a peroxisome biogenesis disorder 6a peroxisome biogenesis disorder 7a perrault perry pettigrew phalanges phelan-mcdermid philtrum phosphoenolpyruvate carboxykinase phosphoglycerate dehydrogenase phosphoribosylaminoimidazole carboxylase phosphoribosylpyrophosphate synthetase superactivity phosphorylase phosphoserine aminotransferase pierpont pierre robin pierson pigmented nodular adrenocortical pigmented paravenous chorioretinal pilarowski-bjornsson pitt-hopkins pitt-hopkins like pitt-hopkins-like pituitary pituitary adenoma pituitary adenoma acth-secreting pityriasis rubra pl2f/rara placental abruption plantaris plasminogen platyspondylic skeletal pleuropulmonary pml/rara pneumopnie poikiloderma with poirier-bienvenu neurodevelopmental poly)pointe-ondes polyarthrite rhumatoïde polycystic kidney disease polycystic kidney disease infantile severe polycystic kidney disease with or without polycystic liver disease polycystic lipomembranous osteodysplasia with sclerosing polycystic liver disease polycystic liver disease with or without kidney polycystic ovary pontocerebellar pontocerebellar hypoplasia popliteal poretti-boltshauser porphyria porphyria cutanea potocki-lupski potocki-shaffer prader-willi preauricular fistulae preauricular sinus preauricular tag preaxial i pregnancy pregnancy-induced preterm premature rupture of the primary closed-angle primary sclerosing primordial dwarfism-immunodeficiency-lipodystrophy primrose progeroid progressiva prolidase deficiency proliferative vasculopathy and hydranencephaly-hydrocephaly properdin prune belly pseudoautosomal pseudofolliculitis pseudohypoaldosteronism pseudohypoparathyroidism ia pseudohypoparathyroidism ib pseudohypoparathyroidism ic pseudotumeur molluscoïde pseudovaginal perineoscrotal pseudoxanthoma pseudoxanthoma elasticum-like disorder with psoriatic pterygium colli pulmonary pulmonary alveolar microlithiasis punctal pits punctate type ia punctate type ib pyle pyloric stenosis pyloric stenosis infantile pyogenic sterile arthritis pyogènes pyridoxamine -phosphate pyridoxine-dependent pyridoxine-refractory pyruvate dehydrogenase pyruvate dehydrogenase e1-beta pyruvate dehydrogenase e2 pyruvate dehydrogenase phosphatase qtl5 quadriparésie r51 - céphalée r61 - hyperhidrose rabin-pappas radioulnar synostosis radioulnar synostosis with amegakaryocytic thrombocytopenia radius incurvé rafiq rahman raine rapadilino rapp-hodgkin rauch-steindl raymond recombination rate refsum renal agenesis renal and limb renal and limb defects renal-hepatic-pancreatic dysplasia renpenning respiratory insufficiency respiratory insufficiency and brain respiratory papillomatosis reticular dysgenesis retinal arterial macroaneurysm with supravalvular pulmonic stenosis retinal cone dystrophy retinal degeneration late-onset rett revesz reynolds rh-induced rh-null rhabdoid rhabdomyosarcoma riboflavin riboflavin-responsive riddle rieger ritscher-schinzel robinow robinow-sorauf roifman roifman-chitayat rosah roussy-levy rubinstein-taybi ruijs-aalfs sacral agenesis with vertebral saethre-chotzen salih myopathy salla disease salt-sensitive sandestig-stefanova sandhoff disease infantile sanfilippo saul-wilson sbbyss scapula scapulo-péronière progressive scapuloperoneal schimke immunoosseous schistosoma mansoni schmid schneckenbecken schnyder schopf-schulz-passarge schuurs-hoeijmakers scid sclerosteosis scott scrotum scurvy secretory secretory chloride sensorineural deafness sensorineural hearing sensorineural hearing loss septooptic serkal sessile serrated severe severe congenital severe cytomegalovirus shaheen sheldon-hall short stature short-rib thoracic dysplasia short-rib thoracic dysplasia with short-rib thoracic dysplasia with or short-rib thoracic dysplasia without shprintzen-goldberg shukla-vernon shwachman-diamond sick sinus siddiqi siderius silver spastic paraplegia silver-russell silverman-handmaker simha sinus pilonidal sinus préauriculaire skeletal sleepwalking type slowed smed strudwick smith-kingsmore smith-lemli-opitz smith-magenis smith-mccort sneddon snijders blok-campeau snijders blok-fisher somatic somatic mosaic sorbitol dehydrogenase deficiency with peripheral sotos sourcils spahr spastic spastic ataxia spastic paralysis spastic paraparesis spastic paraplegia spastic paraplegia and psychomotor retardation spastic quadriplegia spastic quadriplegic spastic tetraplegia spastic tetraplegia and axial hypotonia progressive specific spermatocytic seminoma spermatogenic spermatogenic failure spheroid spinocerebellar spinocerebellar ataxia spondylocostal dysostosis spondylodysplastic spondyloepimetaphyseal squalene stankiewicz-isidor stapes ankylosis with broad thumbs and toes stein-leventhal steiner stevens-johnson stevenson cutis gyrata stocco dos santos striatal striatonigral degeneration stromme sturge-weber stuve-wiedemann subcortical laminal heterotopia subcortical laminar heterotopia subependymal succinic semialdehyde dehydrogenase succinyl coa:3-oxoacid coa transferase deficiency sudden sudden cardiac suleiman-el-hattab superoxide supravalvar aortic stenosis symoens-barnes-gistelinck syndrome- synostose astragalo-calcanéenne synostose astragalocalcanéenne synostose carpienne synostose carpométacarpienne synostose huméroradiale synostose métacarpienne synostose métacarpo-phalangienne synostose métacarpophalangienne synostose métatarsienne synostose scapulo-humérale synostose talocalcanéenne synostose tarsiennne synpolydactyly synthetase deficiency t4 basse t68 - hypothermie takenouchi-kosaki tangier disease tarsal-carpal coalition tateyama tcr-alpha/beta deficient teebi hypertelorism telomere length temple-baraitser tenorio tessadori-van haaften neurodevelopmental testicular testicular anomalies with or without congenital heart disease tetra-amelia tetraamelia tetrasomy 8p thauvin-robinet-faivre thiel-behnke thrombocythemia thrombocytopenia with thrombophilia thrombotic thrombocytopenic thyrotoxic periodic paralysis tietz albinism-deafness timothy to antithrombin pittsburgh tolbutamide poor metabolizer torrance townes-brocks townes-brocks branchiootorenal-like transcobalamin ii treacher collins treacher-collins trehalase trichiase trichilemmal cyst trichothiodystrophy troyer tsc2 angiomyolipomas tuberculosis turner tylosis with esophageal ullrich congenital uncombable hair uretère double uric uridine-cytidineuria] urocanase deficiency uruguay usher usmani-riazuddin valve mitrale valve pulmonaire van van buchem van buchem disease van den ende-gupta van der Woude van der woude van esch-odriscoll van maldergem vascular vascular disease vasculite vasovagal velocardiofacial venous ventricular ventricular arrhythmias ventricular septal defect ventriculomegaly with cystic kidney disease verheij vertebral vesicoureteral vessie neurogène vestibulo-oculaire anormal vestibulocerebellar disorder with predominant ocular signs vexas vibratory visceral visceral myopathy vissers-bodmer vitreoretinopathy with phalangeal epiphyseal vlcad von von Hippel-Lindau von hippel-lindau vries vulto-van silfout-de vries vésico-urétéral vésico-urétéro-rénal waardenburg wagner waisman warfarin warsaw breakage watson weaver weiss-kruszka welander werner white sponge white-kernohan white-sutton willebrand williams-beuren wilson disease wilson-turner winchester wiskott-aldrich with with 6xy sex with abnormal with acanthosis with amelogenesis with ataxia with atrichia and photophobia with autoimmunity with bartter with brachydactyly with cerebellar with cerebellar hypoplasia and cortical with cerebral leukoencephalopathy and systemic manifestations with chromosomal instability somatic with cochlear aplasia with congenital with congenital cataract and developmental with deafness with developmental with episodic with gingival hyperplasia with heterotaxy with hypercalciuric with hyperglycinemia with hypertrophic with hypomyelinating with impaired intellectual with impaired proprioception and touch with impaired pupillary with juvenile macular with limb with male infertility with microcephaly with microcornea with microvillus with migratory circinate with minicore with multisystem with myopathy and facial with neonatal respiratory with neurodevelopmental with neuropsychiatric features and with neuroserpin with oculomotor apraxia and hypoalbuminemia with palmoplantar with paroxysmal with peripheral neuropathy with pyloric with pyloric atresia with respiratory insufficiency and bone with skeletal with spastic with spasticity and tapetoretinal degeneration with subcortical infarcts and with tufting enteropathy congenital with woolly hair and witkop witteveen-kolk wolcott-rallison wolman disease x-linked xeroderma xia-gibbs xv yoon-bellen neurodevelopmental yuan-harel-lupski yunis-varon zimmermann-laband zollinger-ellison épiphysite vertébrale épithélioma baso-cellulaire état