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"

5 matching diseasesClear search ×

Congenital muscular dystrophy with intellectual disability

CMD with intellectual disability · CMD-MR

ORPHA:370968

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 with cerebellar involvement

CMD with cerebellar involvement · CMD-CRB

ORPHA:370959

Congenital muscular dystrophy without intellectual disability

Congenital muscular dystrophy-dystroglycanopathy without intellectual disability · CMD without intellectual disability

ORPHA:370980