Summary Literature (0)

DOID:0111214 - distal spinal muscular atrophy type 5

Disease Ontology Definition:A autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35.

Synonyms: DSMA5, autosomal recessive distal spinal muscular atrophy type 5, young adult-onset dHMN, young adult-onset distal hereditary motor neuropathy,

Echinobase Genes :


OMIM:

MIM:614881 - spinal muscular atrophy, distal, autosomal recessive, 5; dsma5

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee