spinal muscular atrophy spinal muscular atrophy with respiratory distress type 2 https://github.com/monarch-initiative/mondo/issues/6752 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/spinal_muscular_atrophy_with_respiratory_distress_type_2 X-linked spinal muscular atrophy with respiratory distress MEDGEN:1658540 MONDO:0018450 UMLS:C4749434 Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. GARD:0021723 SMARD2 diaphragmatic spinal muscular atrophy type 2 Orphanet:404521 severe infantile axonal neuropathy with respiratory failure type 2