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Beck–Fahrner syndrome. Benign hereditary chorea. BENTA disease. Bethlem myopathy. Birt–Hogg–Dubé syndrome. Blepharophimosis, ptosis, epicanthus inversus syndrome. Blepharoptosis-myopia-ectopia lentis syndrome. Boomerang dysplasia. Bosch–Boonstra–Schaaf optic atrophy syndrome.
The following is a list of genetic disorders and if known, ... autosomal dominant, autosomal recessive or X-linked recessive 2-6:100,000 Hermansky–Pudlak syndrome:
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause ...
It is an autosomal dominant disorder. [1] In about 75% of cases, it is inherited from a parent with the condition, while in about 25% it is a new mutation. [1] Diagnosis is often based on the Ghent criteria, [9] family history and genetic testing (DNA analysis). [2] [4] [3] There is no known cure for MFS. [1]
Specialty. Neurology. Hereditary sensory and autonomic neuropathy type I (HSAN I) or hereditary sensory neuropathy type I (HSN I) is a group of autosomal dominant inherited neurological diseases that affect the peripheral nervous system particularly on the sensory and autonomic functions. The hallmark of the disease is the marked loss of pain ...
Huntington's disease (HD) is a rare autosomal dominant neurodegenerative disorder caused by mutations in the huntingtin gene (HTT). HD is characterized by loss of medium spiny neurons and astrogliosis. [30] [31] [32] The first brain region to be substantially affected is the striatum, followed by degeneration of the frontal and temporal ...
Neurology. Leukodystrophies are a group of, usually, inherited disorders, characterized by degeneration of the white matter in the brain. [1] The word leukodystrophy comes from the Greek roots leuko, "white", dys, "abnormal" and troph, "growth". The leukodystrophies are caused by imperfect growth or development of the glial cells which produce ...
Specialty. Medical genetics. Pseudoachondroplasia is an inherited disorder of bone growth. [1] It is a genetic autosomal dominant disorder. It is generally not discovered until 2–3 years of age, since growth is normal at first. Pseudoachondroplasia is usually first detected by a drop of linear growth in contrast to peers, a waddling gait or ...