Summary Literature (0)

DOID:0111064 - autosomal recessive distal hereditary motor neuronopathy 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: autosomal recessive spinal muscular atrophy with respiratory distress, dHMN6, diaphragmatic spinal muscular atrophy, distal hereditary motor neuropathy type 6, distal-HMN type 6, DSMA1, severe infantile axonal neuropathy with respiratory failure type 1, SIANRF, SMARD1, autosomal recessive distal spinal muscular atrophy 1, distal spinal muscular atrophy 1, spinal muscular atrophy with respiratory distress type 1

Echinobase Genes : ighmbp2


MIM:

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

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

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