DISEASES

Disease-gene associations mined from literature

Human genes for distal hereditary motor neuronopathy type 7A

Distal hereditary motor neuronopathy type 7A [DOID:0111201]

A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3.

Synonyms:  distal hereditary motor neuronopathy type 7A,  distal familial motor neuronopathy type 7A,  DOID:0111201,  DHMN7A,  distal hereditary motor neuropathy type VIIA ...