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What are the symptoms of Graham Boyle Troxell syndrome ? | What are the signs and symptoms of Graham Boyle Troxell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Graham Boyle Troxell syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | |
What are the symptoms of Myopathy congenital ? | What are the signs and symptoms of Myopathy congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Myopathy congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dicti... | |
What are the symptoms of Optic atrophy 6 ? | What are the signs and symptoms of Optic atrophy 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to... | |
What are the symptoms of Cardiocranial syndrome ? | What are the signs and symptoms of Cardiocranial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiocranial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical... | |
What is (are) Gigantomastia ? | Gigantomastia is a rare condition that is characterized by excessive breast growth that may occur spontaneously, during puberty or pregnancy, or while taking certain medications. To date, there is no universally accepted definition for gigantomastia; however, Dancey et al. (2007) state that a review of the medical lite... | |
What are the treatments for Gigantomastia ? | What treatment might be available for someone who has had recurrence of gigantomastia following a breast reduction? Breast reduction with or without hormonal therapy is often the first line of treatment for women who have gigantomastia. However, recurrence of gigantomastia may occur, requiring a second breast reduction... | |
What is (are) Greig cephalopolysyndactyly syndrome ? | Greig cephalopolysyndactyly syndrome (GCPS) is a congenital disorder that affects development of the limbs, head, and face. Findings might include an extra finger or toe (polydactyly), fusion of the skin between the fingers or toes (syndactyly), widely spaced eyes (ocular hypertelorism), and an abnormally large head si... | |
What are the symptoms of Greig cephalopolysyndactyly syndrome ? | What are the signs and symptoms of Greig cephalopolysyndactyly syndrome? The symptoms of Greig cephalopolysyndactyly syndrome (GCPS) are highly variable, ranging from mild to severe. People with this condition typically have limb anomalies, which may include one or more extra fingers or toes (polydactyly), an abnormall... | |
What causes Greig cephalopolysyndactyly syndrome ? | What causes Greig cephalopolysyndactyly syndrome? Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome (GCPS). The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting... | |
Is Greig cephalopolysyndactyly syndrome inherited ? | How is Greig cephalopolysyndactyly syndrome inherited? Greig cephalopolysyndactyly syndrome (GCPS) is often inherited in an autosomal dominant pattern. This means that to be affected, a person only needs a change (mutation) in one copy of the GLI3 gene in each cell. In some cases, an affected person inherits a gene mut... | |
How to diagnose Greig cephalopolysyndactyly syndrome ? | Is genetic testing available for Greig cephalopolysyndactyly syndrome? Yes. GLI3 is the only gene known to be associated with Greig cephalopolysyndactyly syndrome (GCPS). Genetic testing is available to analyze the GLI3 gene for mutations. Mutations involving GLI3 can be identified in greater than 75% of people with GC... | |
What are the treatments for Greig cephalopolysyndactyly syndrome ? | How might Greig cephalopolysyndactyly syndrome be treated? Treatment for Greig cephalopolysyndactyly syndrome (GCPS) is symptomatic. Treatment might include elective surgical repair of polydactyly. Evaluation and treatment of hydrocephalus might additionally occur if hydrocephalus is present. Hydrocephalus is a condit... | |
What are the symptoms of Glomerulopathy with fibronectin deposits 1 ? | What are the signs and symptoms of Glomerulopathy with fibronectin deposits 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulopathy with fibronectin deposits 1. If the information is available, the table below includes how often the symptom is seen in people with this condit... | |
What are the symptoms of Bartter syndrome type 3 ? | What are the signs and symptoms of Bartter syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... | |
What is (are) Apert syndrome ? | Apert syndrome is a disorder mainly characterized by craniosynostosis (premature fusion of skull bones, causing abnormalities in the shape of the head and face) and syndactyly (fusion or webbing or fingers and/or toes). Other signs and symptoms may include distinctive facial features (bulging and wide-set eyes; a beake... | |
What are the symptoms of Apert syndrome ? | What are the signs and symptoms of Apert syndrome? Apert syndrome is characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face, effectively resulting in a cone or tower shaped skull. In addition,... | |
How to diagnose Apert syndrome ? | How is Apert syndrome diagnosed? Is genetic testing needed to confirm the diagnosis? Apert syndrome and the other conditions associated with FGFR-related craniosynostosis were clinically defined long before the molecular basis of this group of disorders was discovered. Apert syndrome can be diagnosed primarily based on... | |
What are the symptoms of Deafness, X-linked 2 ? | What are the signs and symptoms of Deafness, X-linked 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, X-linked 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dic... | |
What is (are) Blepharospasm ? | Benign essential blepharospasm is a progressive neurological disorder characterized by involuntary muscle contractions and spasms of the eyelid muscles. It is a form of dystonia, a movement disorder in which muscle contractions cause sustained eyelid closure, twitching or repetitive movements. Benign essential blepharo... | |
What are the symptoms of Blepharospasm ? | What are the signs and symptoms of Blepharospasm? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharospasm. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to loo... | |
What are the symptoms of Cone-rod dystrophy X-linked 2 ? | What are the signs and symptoms of Cone-rod dystrophy X-linked 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy X-linked 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | |
What are the symptoms of Spermatogenesis arrest ? | What are the signs and symptoms of Spermatogenesis arrest? The Human Phenotype Ontology provides the following list of signs and symptoms for Spermatogenesis arrest. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical... | |
What is (are) Developmental dysphasia familial ? | Developmental dysphasia is a language disorder that develops in children. The disorder typically involves difficulties speaking and understanding spoken words. The symptoms cannot be attributed to sensorimotor, intellectual deficits, autism spectrum, or other developmental impairments. Likewise it does not occur as the... | |
What are the symptoms of Ehlers-Danlos-like syndrome due to tenascin-X deficiency ? | What are the signs and symptoms of Ehlers-Danlos-like syndrome due to tenascin-X deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos-like syndrome due to tenascin-X deficiency. If the information is available, the table below includes how often the symptom is see... | |
What is (are) CHOPS syndrome ? | CHOPS syndrome is rare condition that affects many different parts of the body. "CHOPS" is an acronym for the primary signs and symptoms associated with the condition, including cognitive impairment, coarse facial features, heart defects, obesity, pulmonary (lung) problems, short stature, and skeletal abnormalities. CH... | |
What are the symptoms of CHOPS syndrome ? | What are the signs and symptoms of CHOPS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CHOPS syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l... | |
What are the symptoms of Insulin-like growth factor I deficiency ? | What are the signs and symptoms of Insulin-like growth factor I deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Insulin-like growth factor I deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | |
What is (are) Hypolipoproteinemia ? | Hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood. Low lipid levels may be caused by rare genetic conditions, or be a sign of another disorder such as overactive thyroid, anemia, undernutrition, cancer, chronic infection, or impaired absorption of foods from the digestive tract. Associate... | |
What are the symptoms of Hypolipoproteinemia ? | Are there other symptoms associated with hypolipoproteinemia? Some reports suggest that hypolipoproteinemia (low cholesterol levels) in general may increase the risk for development of fatty livers. | |
What causes Hypolipoproteinemia ? | What causes familial or genetic hypolipoproteinemia? Cholesterol levels in general are thought to be influenced by genetic factors. Very low levels of lipids (hypolipoproteinemia) is known to be caused by certain genetic conditions, including hypobetalipoproteinemia, abetalipoproteinemia, and chylomicron retention dise... | |
What is (are) Localized scleroderma ? | Localized scleroderma is characterized by thickening of the skin from excessive collagen deposits. Collagen is a protein normally present in our skin that provides structural support. However, when too much collagen is made, the skin becomes stiff and hard. Localized types of scleroderma are those limited to the skin a... | |
What are the symptoms of Localized scleroderma ? | What are the signs and symptoms of Localized scleroderma? Signs and symptoms of morphea, include: Hardening of the skin. Thickening of the skin. Discoloration of the affected skin to look lighter or darker than the surrounding area. The first signs of the disease are reddish patches of skin that thicken into firm, ova... | |
What causes Localized scleroderma ? | What causes morphea? The exact cause of morphea is unknown. It is not infectious. It is not hereditary, though, similar problems may present in other family members. It's believed that a reaction of the immune system plays a role in the development of this rare condition. Experts have explored a possible connection bet... | |
What are the treatments for Localized scleroderma ? | How might morphea be treated? There is no cure for morphea. Treatment is aimed at controlling the signs and symptoms and slowing the spread of the disease. The precise treatment depends on the extent and severity of the condition. Some people with mild morphea may choose to defer treatment. For people with morphea invo... | |
What is (are) Mal de debarquement ? | Mal de debarquement syndrome is a balance disorder that most commonly develops following an ocean cruise or other type of water travel and less commonly following air travel, train travel, or other motion experiences. The symptoms typically reported include: persistent sensation of motion such as rocking, swaying, and/... | |
What are the treatments for Mal de debarquement ? | How might mal de debarquement syndrome be treated? Treatment options for mal de debarquement syndrome (MdDS) are limited. Most drugs that work for other forms of dizziness do not work for MdDS. On some cases, medications classified as vestibular suppressants, such as anti-depressants and anti-seizure medications, may b... | |
What is (are) Glucose-6-phosphate dehydrogenase deficiency ? | Glucose 6 phosphate dehydrogenase (G6PD) deficiency is a hereditary condition in which red blood cells break down (hemolysis) when the body is exposed to certain foods, drugs, infections or stress. This condition occurs when a person is missing or doesn't have enough glucose-6-phosphate dehydrogenase, an enzyme which h... | |
What are the symptoms of Glucose-6-phosphate dehydrogenase deficiency ? | What are the signs and symptoms of glucose-6-phosphate dehydrogenase (G6PD) deficiency? People with G6PD deficiency do not have signs of the disease unless their red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or to stress. Many people with this condition nev... | |
What causes Glucose-6-phosphate dehydrogenase deficiency ? | What causes glucose-6-phosphate dehydrogenase (G6PD) deficiency? Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by mutations in the G6PD gene. This gene gives the body instructions to make an enzyme called G6PD, which is involved in processing carbohydrates. This enzyme also protects red blood cells fro... | |
Is Glucose-6-phosphate dehydrogenase deficiency inherited ? | How is glucose-6-phosphate dehydrogenase (G6PD) deficiency inherited? G6PD deficiency is inherited in an X-linked recessive manner. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one changed (mutated) copy of th... | |
What are the treatments for Glucose-6-phosphate dehydrogenase deficiency ? | How might glucose-6-phosphate dehydrogenase (G6PD) deficiency be treated? The most important aspect of management for G6PD deficiency is to avoid agents that might trigger an attack. In cases of acute hemolytic anemia, a blood transfusion or even an exchange transfusion may be required. The G6PD Deficiency Association,... | |
What is (are) Familial isolated hyperparathyroidism ? | Familial isolated hyperparathyroidism (FIHP) is an inherited form of primary hyperparathyroidism that is not associated with other features. The age of diagnosis varies from childhood to adulthood. In FIHP, tumors involving the parathyroid glands cause the production and release of excess parathyroid hormone, which in ... | |
What are the symptoms of Familial isolated hyperparathyroidism ? | What are the signs and symptoms of Familial isolated hyperparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial isolated hyperparathyroidism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
Is Familial isolated hyperparathyroidism inherited ? | How is familial isolated hyperparathyroidism inherited? Familial isolated hyperparathyroidism (FIHP) is typically inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. When a person wi... | |
How to diagnose Familial isolated hyperparathyroidism ? | How is familial isolated hyperparathyroidism diagnosed? The diagnosis of familial isolated hyperparathyroidism (FIHP) is primarily a diagnosis of exclusion. This means that it is diagnosed when no symptoms or genetic features of other forms of familial hyperparathyroidism are present. FIHP may be the only feature of an... | |
What are the symptoms of Spastic paraplegia facial cutaneous lesions ? | What are the signs and symptoms of Spastic paraplegia facial cutaneous lesions? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia facial cutaneous lesions. If the information is available, the table below includes how often the symptom is seen in people with this cond... | |
What are the symptoms of Dysequilibrium syndrome ? | What are the signs and symptoms of Dysequilibrium syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dysequilibrium syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... | |
What is (are) Leber hereditary optic neuropathy ? | Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females. This condition is caused by mutation... | |
What are the symptoms of Leber hereditary optic neuropathy ? | What are the signs and symptoms of Leber hereditary optic neuropathy? Blurring and clouding of vision are usually the first symptoms of this disorder. These vision problems may begin in one eye or simultaneously in both eyes; if vision loss starts in one eye, the other eye is usually affected within several weeks or mo... | |
What causes Leber hereditary optic neuropathy ? | What causes Leber hereditary optic neuropathy (LHON)? Leber hereditary optic neuropathy is a condition related to changes in mitochondrial DNA. Mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes cause LHON. These genes are contained in mitochondrial DNA. Mitochondria are structures within cells that convert the... | |
Is Leber hereditary optic neuropathy inherited ? | How is Leber hereditary optic neuropathy (LHON) inherited? Leber hereditary optic neuropathy is an inherited condition that has a mitochondrial pattern of inheritance. The gene mutations that cause this condition are found in the mitochondrial DNA. Mitochondria are inherited from a person's mother, and as a result, onl... | |
What are the symptoms of Patterson pseudoleprechaunism syndrome ? | What are the signs and symptoms of Patterson pseudoleprechaunism syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Patterson pseudoleprechaunism syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | |
What is (are) Focal dermal hypoplasia ? | Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. The skin abnormalities are present from birth and can include streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases. They also may abnormalities in the nails, hands, and feet. Some of the ... | |
What are the symptoms of Focal dermal hypoplasia ? | What are the signs and symptoms of Focal dermal hypoplasia? Focal dermal hypoplasia is usually evident from birth and primarily affects the skin, skeleton, eyes, and face. The signs and symptoms of vary widely, although almost all affected individuals have skin abnormalities. Some of the skin findings include streaks o... | |
Is Focal dermal hypoplasia inherited ? | How is this condition inherited? Focal dermal hypoplasia is caused by mutations in the PORCN gene and is inherited in an X-linked dominant manner. Many cases of focal dermal hypoplasia result from a new mutation and occur in people with no history of the disorder in their family For a woman affected with focal dermal h... | |
What are the symptoms of Holoprosencephaly, recurrent infections, and monocytosis ? | What are the signs and symptoms of Holoprosencephaly, recurrent infections, and monocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Holoprosencephaly, recurrent infections, and monocytosis. If the information is available, the table below includes how often the symptom is see... | |
What are the symptoms of ABCD syndrome ? | What are the signs and symptoms of ABCD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ABCD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to loo... | |
What are the symptoms of Thyroid hormone plasma membrane transport defect ? | What are the signs and symptoms of Thyroid hormone plasma membrane transport defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyroid hormone plasma membrane transport defect. If the information is available, the table below includes how often the symptom is seen in people with... | |
What are the symptoms of Hypomandibular faciocranial dysostosis ? | What are the signs and symptoms of Hypomandibular faciocranial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomandibular faciocranial dysostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | |
What is (are) Creutzfeldt-Jakob disease ? | Creutzfeldt-Jakob disease (CJD) is a rare fatal brain disorder that usually occurs later in life and runs a rapid course. In the early stages of the disease, patients may have failing memory, behavior changes, impaired coordination, and vision problems. As CJD progresses, mental deterioration becomes severe, and they c... | |
What are the symptoms of Creutzfeldt-Jakob disease ? | What are the signs and symptoms of Creutzfeldt-Jakob disease? Creutzfeldt-Jakob disease (CJD) is characterized by rapidly progressive dementia. Initially, patients experience problems with muscular coordination; personality changes, including impaired memory, judgment, and thinking; and impaired vision. People with the... | |
What causes Creutzfeldt-Jakob disease ? | What causes Creutzfeldt-Jakob disease? Some researchers believe an unusual 'slow virus' or another organism causes Creutzfeldt-Jakob disease (CJD). However, they have never been able to isolate a virus or other organism in people with the disease. Furthermore, the agent that causes CJD has several characteristics that ... | |
How to diagnose Creutzfeldt-Jakob disease ? | How is Creutzfeldt-Jakob disease diagnosed? There is currently no single diagnostic test for Creutzfeldt-Jakob disease (CJD). When a doctor suspects CJD, the first concern is to rule out treatable forms of dementia such as encephalitis (inflammation of the brain) or chronic meningitis. A neurological examination will b... | |
What are the treatments for Creutzfeldt-Jakob disease ? | How might Creutzfeldt-Jakob disease be treated? There is no treatment that can cure or control Creutzfeldt-Jakob disease (CJD). Researchers have tested many drugs, including amantadine, steroids, interferon, acyclovir, antiviral agents, and antibiotics. Studies of a variety of other drugs are now in progress. However, ... | |
What is (are) Geniospasm ? | Hereditary geniospasm is a movement disorder that causes episodes of involuntary tremors of the chin and lower lip. The episodes may last anywhere from a few seconds to hours and may occur spontaneously or be brought on by stress. The episodes usually first appear in infancy or childhood and tend to lessen in frequency... | |
What are the symptoms of Geniospasm ? | What are the signs and symptoms of Geniospasm? The Human Phenotype Ontology provides the following list of signs and symptoms for Geniospasm. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up t... | |
Is Geniospasm inherited ? | How is hereditary geniospasm inherited? Hereditary geniospasm is inherited in an autosomal dominant manner. This means that having only one mutated copy of the causative gene in each body cell is sufficient to cause signs and symptoms of the condition. When an individual with an autosomal dominant condition has childre... | |
How to diagnose Geniospasm ? | How might hereditary geniospasm be diagnosed? Although we were unable to locate laboratories offering genetic testing for hereditary geniospasm, the condition can be diagnosed on the basis of a clinical evaluation performed by a health care professional such as a neurologist who specializes in movement disorders. | |
What are the treatments for Geniospasm ? | How might hereditary geniospasm be treated? Hereditary geniospasm, which may also be referred to as hereditary essential chin myoclonus, is generally considered a benign disorder although in some cases it can cause anxiety and social embarrassment. Significant improvement with age has been reported. Several drugs are u... | |
What is (are) Diabetic mastopathy ? | Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es). | |
What are the symptoms of Diabetic mastopathy ? | What are the symptoms of diabetic mastopathy? Common symptoms of diabetic mastopathy include hard, irregular, easily movable, discrete, painless breast mass(es). This condition can involve one or both breasts and can affect males and females. The breast lesions may not be palpable in some patients. Patients with diabet... | |
What causes Diabetic mastopathy ? | What causes diabetic mastopathy? The cause of diabetic mastopathy is unknown. Theories include an autoimmune reaction, genetic factors such as human leukocyte antigen (HLA) type, association with insulin therapy, and association with hyperglycemia. | |
How to diagnose Diabetic mastopathy ? | How is diabetic mastopathy diagnosed? The diagnosis of diabetic mastopathy should be considered in patients with long-standing insulin-dependent diabetes and a firm, mobile breast mass. Initial imaging may include mammography and ultrasound. While these methods can help to further differentiate the mass, they cannot pr... | |
What are the treatments for Diabetic mastopathy ? | How is diabetic mastopathy treated? Diabetic mastopathy is a benign condition and should be managed as such. Patients should be advised about the condition and how to self examine the breasts. They should be advised that iif there are any changes in size and number of breast lumps that they should consult their breast ... | |
What are the symptoms of Cataracts, ataxia, short stature, and mental retardation ? | What are the signs and symptoms of Cataracts, ataxia, short stature, and mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataracts, ataxia, short stature, and mental retardation. If the information is available, the table below includes how often the symptom is see... | |
What is (are) Intestinal pseudoobstruction neuronal chronic idiopathic X-linked ? | Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogen... | |
What are the symptoms of Intestinal pseudoobstruction neuronal chronic idiopathic X-linked ? | What are the signs and symptoms of Intestinal pseudoobstruction neuronal chronic idiopathic X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Intestinal pseudoobstruction neuronal chronic idiopathic X-linked. If the information is available, the table below includes how often ... | |
What is (are) Q fever ? | Q fever is a worldwide disease with acute and chronic stages caused by the bacteria known as Coxiella burnetii. Cattle, sheep, and goats are the primary reservoirs although a variety of species may be infected. Organisms are excreted in birth fluids, milk, urine, and feces of infected animals and are able to survive fo... | |
What are the symptoms of Maturity-onset diabetes of the young, type 1 ? | What are the signs and symptoms of Maturity-onset diabetes of the young, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 1. If the information is available, the table below includes how often the symptom is seen in people with this co... | |
What is (are) Fine-Lubinsky syndrome ? | Fine-Lubinsky syndrome (FLS) is a very rare syndrome that affects various parts of the body. Signs and symptoms can vary and may include brachycephaly or plagiocephaly; structural brain abnormalities; abnormal EEG; intellectual disability; deafness; eye conditions (cataracts or glaucoma); distinctive facial features; a... | |
What are the symptoms of Fine-Lubinsky syndrome ? | What are the signs and symptoms of Fine-Lubinsky syndrome? The signs and symptoms known to occur in people with Fine-Lubinsky syndrome (FLS) are based on reports of the few people who have been diagnosed and described in the medical literature. Numerous features have been reported and many of them vary among affected p... | |
What causes Fine-Lubinsky syndrome ? | What causes Fine-Lubinsky syndrome? The cause of Fine-Lubinsky syndrome remains unknown. With the exception of one family report of an affected brother and sister (suggesting an autosomal recessive inheritance pattern), all other cases have been sporadic (occurring in people with no family history of FLS). Additional r... | |
Is Fine-Lubinsky syndrome inherited ? | How is Fine-Lubinsky syndrome inherited? Almost all people reported to have FineLubinsky syndrome (FLS) have been the only affected people in their families (these cases were sporadic). There has been one report of an affected brother and sister with unaffected parents, suggesting autosomal recessive inheritance. Addit... | |
How to diagnose Fine-Lubinsky syndrome ? | How is Fine-Lubinsky syndrome diagnosed? In 2009, Corona-Rivera et. al reviewed the signs and symptoms reported in people diagnosed with Fine-Lubinsky syndrome (FLS). They identified key signs for diagnosis as: non-synostotic (without synostosis) brachycephaly (short or broad head) or plagiocephaly (flattening of the h... | |
What is (are) Chromosome 16q deletion ? | Chromosome 16q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occu... | |
What is (are) Lujan syndrome ? | Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and poor muscle tone (hypotonia). Affected people also tend to have characteristic physical features such as a tall and thin body; a large head (macrocephaly); and a thin face with distinctive facial features (prominent top of ... | |
What are the symptoms of Lujan syndrome ? | What are the signs and symptoms of Lujan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lujan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l... | |
What are the symptoms of Aromatase excess syndrome ? | What are the signs and symptoms of Aromatase excess syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Aromatase excess syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... | |
What are the symptoms of Muscular fibrosis multifocal obstructed vessels ? | What are the signs and symptoms of Muscular fibrosis multifocal obstructed vessels? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular fibrosis multifocal obstructed vessels. If the information is available, the table below includes how often the symptom is seen in people with t... | |
What is (are) Acquired pure red cell aplasia ? | Acquired pure red cell aplasia (PRCA) is a bone marrow disorder characterized by a reduction of red blood cells (erythrocytes) produced by the bone marrow. Signs and symptoms may include fatigue, lethargy, and/or abnormal paleness of the skin (pallor) due to the anemia the caused by the disorder. In most cases, the cau... | |
What are the treatments for Acquired pure red cell aplasia ? | How might acquired pure red cell aplasia be treated? The main goals of treatment for pure red cell aplasia (PRCA) are to restore the production of red blood cells, maintain adequate hemoglobin levels, and treat underlying disorders that may be causing the condition. The initial treatment plan typically includes blood t... | |
What are the symptoms of 49,XXXXX syndrome ? | What are the signs and symptoms of 49,XXXXX syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 49,XXXXX syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionar... | |
What is (are) Bilateral perisylvian polymicrogyria ? | Bilateral perisylvian polymicrogyria (BPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). Signs and symptoms include partial paralysis of muscles on both sides of the face, tongue, jaws, and throat; difficulties in speaking, chewing, and swallowing; and/or seizures. I... | |
What are the symptoms of Bilateral perisylvian polymicrogyria ? | What are the signs and symptoms of Bilateral perisylvian polymicrogyria? The signs and symptoms of bilateral perisylvian polymicrogyria (BPP) vary but may include: Partial paralysis of muscles on both sides of the face, tongue, jaws, and throat Dysarthria Difficulty chewing Dysphagia Mild to severe intellectual disabi... | |
What causes Bilateral perisylvian polymicrogyria ? | What causes bilateral perisylvian polymicrogyria? The exact underlying cause of bilateral perisylvian polymicrogyria (BPP) is unknown. The signs and symptoms associated with the condition are thought to be due to improper development of the outer surface of the brain (cerebral cortex) during embryonic growth. The cereb... | |
Is Bilateral perisylvian polymicrogyria inherited ? | Is bilateral perisylvian polymicrogyria inherited? In most cases, bilateral perisylvian polymicrogyria (BPP) occurs sporadically in people with no family history of the condition. Rarely, more than one family member may be affected by BPP. These cases may follow an autosomal dominant, autosomal recessive, or X-linked p... | |
How to diagnose Bilateral perisylvian polymicrogyria ? | Is genetic testing available for bilateral perisylvian polymicrogyria? Genetic testing is not available for bilateral perisylvian polymicrogyria because the underlying genetic cause is unknown. How is bilateral perisylvian polymicrogyria diagnosed? A diagnosis of bilateral perisylvian polymicrogyria (BPP) is typically ... | |
What are the treatments for Bilateral perisylvian polymicrogyria ? | How might bilateral perisylvian polymicrogyria be treated? There is no cure for bilateral perisylvian polymicrogyria (BPP). Treatment is generally based on the signs and symptoms present in each person. For example, medications may be prescribed to treat seizures and/or epilepsy. People affected by BPP may also benefit... | |
What are the symptoms of Acroosteolysis dominant type ? | What are the signs and symptoms of Acroosteolysis dominant type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acroosteolysis dominant type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | |
What are the symptoms of Oculo-cerebral dysplasia ? | What are the signs and symptoms of Oculo-cerebral dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculo-cerebral dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med... |
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