autosomal recessive distal hereditary motor neuronopathy 4 (DOID:0111213)
Alliance: disease page
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
Alt IDs: OMIM:611067, MESH:C567023, ORDO:206580, UMLS_CUI:C1970211
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.