Human genes for distal spinal muscular atrophy type 4
Distal spinal muscular atrophy type 4 [DOID:0111213]
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.
Synonyms: distal spinal muscular atrophy type 4, DOID:0111213, autosomal recessive distal spinal muscular atrophy type 4, autosomal recessive lower motor neuron disease with childhood onset, DSMA4 ...