Summary Literature (0)

DOID:12376 - juvenile spinal muscular atrophy

Disease Ontology Definition:A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13.

Synonyms: SMA3, spinal muscular atrophy of childhood, Spinal muscular atrophy, familial, Type III Spinal Muscular Atrophy, Kugelberg-Welander disease, Spinal Muscular Atrophy Type 3

Echinobase Genes :


MIM:

MIM:253400 - spinal muscular atrophy, type iii; sma3

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

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