Term Name: | obsolete distal hereditary motor neuronopathy type 7A |
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Synonyms: | DHMN7A, distal hereditary motor neuropathy type VIIA, distal spinal muscular atrophy with vocal cord paralysis type 7A, Harper-Young myopath, HMN VIIA, HMN7A |
Definition: | 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. |
Ontology: | Human Disease [DOID:0111201] ( DOID:0111201 ) |
Obsolete | true |