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"

4 matching diseasesClear search ×

Centronuclear myopathy

CNM

ORPHA:595

Congenital myopathy with internal nuclei and atypical cores

CNM4 · Centronuclear myopathy type 4

ORPHA:319160

Autosomal dominant centronuclear myopathy

AD-CNM

ORPHA:169189

Autosomal recessive centronuclear myopathy

AR-CNM

ORPHA:169186