Term Name: | autosomal recessive distal hereditary motor neuronopathy 4 |
---|---|
Synonyms: | autosomal recessive distal spinal muscular atrophy type 4, autosomal recessive lower motor neuron disease with childhood onset, distal spinal muscular atrophy type 4, DSMA4 |
Definition: | An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31. |
Ontology: | Human Disease [DOID:0111213] ( DOID:0111213 ) |