Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

6 matching diseasesClear search ×

Congenital muscular dystrophy with hyperlaxity

CMDH

ORPHA:371007

Congenital muscular dystrophy

CMD · MDC

ORPHA:97242

Congenital muscular dystrophy due to LMNA mutation

L-CMD · LMNA-related congenital muscular dystrophy

ORPHA:157973

Congenital muscular dystrophy type 1B

CMD1B · MDC1B

ORPHA:98893

Congenital muscular dystrophy type 1C

CMD1C · MDC1C

ORPHA:52428

Laminin subunit alpha 2-related congenital muscular dystrophy

CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency

ORPHA:258