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 ...