has material basis in germline mutation in IGHMBP2 spinal muscular atrophy autosomal recessive distal spinal muscular atrophy 1 https://www.malacards.org/card/neuronopathy_distal_hereditary_motor_autosomal_recessive_1 SIANRF severe infantile axonal neuropathy with respiratory failure type 1 autosomal recessive distal spinal muscular atrophy 1 HMN VI neuronopathy, distal hereditary motor, type VI SMARD1 distal hereditary motor neuropathy type 6 DOID:0111064 autosomal recessive spinal muscular atrophy with respiratory distress spinal muscular atrophy, distal, autosomal recessive, 1 MESH:C536880 IGHMBP2 spinal muscular atrophy MONDO:0011436 diaphragmatic spinal muscular atrophy GARD:0008592 dSMA1 UMLS:C1858517 ICD9:335.19 dHMN6 spinal muscular atrophy, distal, autosomal recessive, type 1 spinal muscular atrophy with respiratory distress type 1 autosomal recessive distal spinal muscular atrophy type 1 SCTID:711483003 NORD:1994 distal-HMN type 6 DSMA1 Orphanet:98920 Spinal Muscular Atrophy with Respiratory Distress OMIM:604320 Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features. MEDGEN:388083 spinal muscular atrophy caused by mutation in IGHMBP2 neuronopathy, distal hereditary motor, autosomal recessive