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 ×

Symptomatic form of X-linked centronuclear myopathy in female carriers

Symptomatic form of X-linked myotubular myopathy in female carriers · Symptomatic form of XLMTM in female carriers

ORPHA:604680

OBSOLETE: Symptomatic form of fragile X syndrome in female carriers

ORPHA:449291

Symptomatic form of Coffin-Lowry syndrome in female carriers

ORPHA:276630

Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

ORPHA:206546