DISEASES

Disease-gene associations mined from literature

Human genes for distal spinal muscular atrophy 1

Distal spinal muscular atrophy 1 [DOID:0111064]

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:  distal spinal muscular atrophy 1,  DOID:0111064,  DSMA1,  SIANRF,  SMARD1 ...