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 )

Relationships
is a type of: autosomal recessive distal hereditary motor neuronopathy