autosomal dominant distal hereditary motor neuronopathy 7

Term ID

DOID:0111199

Synonyms

• dHMN7
• DHMNVPy
• distal hereditary motor neuronopathy type 7
• distal spinal muscular atrophy with vocal cord paralysis

Definition

An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. (2)

References

• OMIM:158580
• ORDO:139589

Ontology

Human Disease   ( DOID:0111199 )