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"

200 matching diseasesClear search ×

X-linked intellectual disability-spastic quadriparesis syndrome

ORPHA:163982

X-linked intellectual disability, Najm type

MICPCH · X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome

ORPHA:163937

X-linked intellectual disability, Nascimento type

X-linked intellectual disability-nail dystrophy-seizures syndrome

ORPHA:163956

X-linked intellectual disability, Shashi type

Syndromic X-linked intellectual disability type 11

ORPHA:85286

X-linked non progressive cerebellar ataxia

ORPHA:314978

X-linked non-syndromic intellectual disability

ORPHA:777

X-linked progressive cerebellar ataxia

ORPHA:1175

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

ORPHA:1436