congenital muscular dystrophy with hyperlaxity https://github.com/monarch-initiative/mondo/issues/4069 https://www.malacards.org/card/congenital_muscular_dystrophy_with_hyperlaxity UMLS:C4706389 MEDGEN:1633415 Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time. MONDO:0018281 GARD:0021600 Orphanet:371007 SCTID:763314009 CMDH congenital muscular dystrophy