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, autosomal recessive distal spinal muscular atrophy 1, autosomal recessive spinal muscular atrophy with respiratory distress, dHMN6 ...