Human genes for hereditary sensory and autonomic neuropathy type 7
Hereditary sensory and autonomic neuropathy type 7 [DOID:0070149]
A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22.
Synonyms: hereditary sensory and autonomic neuropathy type 7, DOID:0070149, familial sensory and autonomic neuropathy type 7, hereditary sensory and autonomic neuropathy type VII, HSAN7 ...