Human genes for hereditary sensory neuropathy type 2C
Hereditary sensory neuropathy type 2C [DOID:0070147]
A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37.
Synonyms: hereditary sensory neuropathy type 2C, DOID:0070147, familial sensory neuropathy type 2C, hereditary sensory neuropathy type IIC, HSN2C ...