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congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Uniprot Description An autosomal recessive, severe congenital muscular dystrophy characterized by neonatal onset of muscle weakness predominantly involving axial muscles, life-threatening respiratory failure, skin abnormalities and joint hyperlaxity without contractures. Muscle biopsies show multi-minicores, caps and dystrophic lesions.
Mondo Term and Equivalent IDs
MONDO:0014896:  congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Orphanet:486815: 
UMLS:C4310736: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found