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spinal muscle atrophy with respiratory distress type 1 (SMARD1)
Genetics:
- associated with defects in IGHMBP2
Clinical manifestations:
- intrauterine growth retardation
- weak cry
- foot deformities
- early-onset respiratory failure due to diaphragmatic paralysis
- severe distal muscle weakness
General
spinal muscle atrophy with respiratory distress (SMARD)
Database Correlations
OMIM 604320
References
OMIM :accession 604320