Term Name:	autosomal recessive distal hereditary motor neuronopathy 1
Synonyms:	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 spinal muscular atrophy 1, distal-HMN type 6, DSMA1, severe infantile axonal neuropathy with respiratory failure type 1, SIANRF, SMARD1, spinal muscular atrophy with respiratory distress type 1
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.
Ontology:	Human Disease [DOID:0111064]   ( DOID:0111064 )