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 ×

Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome

Neurodevelopmental delay-hypotonia-cerebellar atrophy-cardiac conduction defects syndrome · Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome

ORPHA:641361

CAMOS syndrome

Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome · SCAR5

ORPHA:83472

Cerebellar ataxia-ectodermal dysplasia syndrome

ORPHA:1174

Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome

Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome

ORPHA:329332