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139
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Disorder of nervous system
- ... mutations have been identified in people with a nervous system disorder called autosomal dominant cerebellar ataxia, deafness, and narcolepsy ( ... mutations have been identified in people with another nervous system disorder called hereditary sensory and autonomic neuropathy type IE ( ...
- ... associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems. Cell Tissue Res. 2015 Jun;360(3):659- ...
- ... least one DCTN1 gene mutation that causes a nervous system disorder called distal hereditary motor neuronopathy type VIIB. Signs ...
- ... episodic ataxia type 6 (EA6), which is a nervous system disorder involving episodes of poor coordination and balance (ataxia). ...
- ... identified in people with lateral meningocele syndrome. This disorder affects the nervous system, the bones and muscles, and other body systems. The condition is characterized by abnormalities known as lateral ... associated with this disorder may damage the nerves that spread from the ...
- ... in this single gene can cause several different disorders of the nervous system. AEMK EA1 HBK1 HUK1 KCNA1_HUMAN KV1.1 ...
- ... hydroxylase-associated neurodegeneration (FAHN). FAHN is a progressive disorder of the nervous system characterized by problems with movement and vision that ...
- ... been identified in people with UNC80 deficiency, a disorder that causes severe nervous system and developmental problems that are apparent from birth ...
- ... with beta-propeller protein-associated neurodegeneration (BPAN), a disorder that damages the nervous system. This damage leads to delayed development and recurrent ...
- ... than 110 mutations that cause metachromatic leukodystrophy, a disorder that causes deterioration of nervous system functions, have been identified in the ARSA gene. ...
