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Summary Literature (0)
DOID:0111213 - distal spinal muscular atrophy type 4


Disease Ontology 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.

Synonyms: DSMA4, autosomal recessive distal spinal muscular atrophy type 4, autosomal recessive lower motor neuron disease with childhood onset

Xenbase Genes : plekhg5


OMIM:
OMIM:611067 - SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4

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

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