Neuropathy, hereditary sensory and autonomic, type 2A

MONDO:0024309

A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13

Also known as: HSAN 2A, HSAN2A, HSN 2A, neuropathy, hereditary sensory and autonomic, type II, neuropathy, hereditary sensory and autonomic, type IIA, neuropathy, hereditary sensory, type 2A, Morvan disease, acroosteolysis, Giaccai type

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