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"

57 matching diseasesClear search ×

Spastic paraplegia-epilepsy-intellectual disability syndrome

SPEMR

ORPHA:2816

Spinocerebellar ataxia type 32

Cerebellar ataxia with azoospermia and intellectual disability · SCA32

ORPHA:276183

Temple-Baraitser syndrome

Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome · TMBTS

ORPHA:420561

Uveal coloboma-cleft lip and palate-intellectual disability

ORPHA:1473

X-linked intellectual disability-epilepsy syndrome

ORPHA:2076

X-linked intellectual disability, Abidi type

ORPHA:85273

X-linked intellectual disability, Wilson type

ORPHA:85290

X-linked intellectual disability, Wittwer type

Wittwer syndrome

ORPHA:85291

X-linked spasticity-intellectual disability-epilepsy syndrome

ORPHA:3175