Summary Literature (0)

DOID:0111064 - distal spinal muscular atrophy 1

Disease Ontology Definition:A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.

Synonyms: DSMA1, SIANRF, SMARD1, autosomal recessive distal spinal muscular atrophy 1, autosomal recessive spinal muscular atrophy with respiratory distress, dHMN6, diaphragmatic spinal muscular atrophy, distal hereditary motor neuropathy type 6, distal-HMN type 6, severe infantile axonal neuropathy with respiratory failure type 1, spinal muscular atrophy with respiratory distress type 1,

Echinobase Genes : ighmbp2


OMIM:

MIM:604320 - spinal muscular atrophy, distal, autosomal recessive, 1; dsma1

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

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