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"

165 matching diseasesClear search ×

Rare syndromic intellectual disability

ORPHA:102369

Richards-Rundle syndrome

Ketoaciduria-intellectual disability-ataxia-deafness syndrome · Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome

ORPHA:1399

Richieri Costa-da Silva syndrome

Myotonia-intellectual disability-skeletal anomalies syndrome

ORPHA:3101

Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome

IQSEC2-related syndromic intellectual disability

ORPHA:397933

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

SINO syndrome

ORPHA:521390

Syndromic X-linked intellectual disability 7

MRXS7 · X-linked intellectual disability, Ahmad type

ORPHA:85274

Tall stature-intellectual disability-renal anomalies syndrome

Thauvin-Robinet-Faivre syndrome

ORPHA:500095

Temple-Baraitser syndrome

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

ORPHA:420561

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Oliver-McFarlane syndrome · Long eyelashes-intellectual disability syndrome

ORPHA:3363

Ulna hypoplasia-intellectual disability syndrome

ORPHA:2249

Wilson-Turner syndrome

WTS · X-linked intellectual disability-gynecomastia-obesity syndrome

ORPHA:3459

Witteveen-Kolk syndrome

SIN3A-related intellectual disability syndrome · WITKOS

ORPHA:500163

Woodhouse-Sakati syndrome

Diabetes-hypogonadism-deafness-intellectual disability syndrome · Diabetes-hypogonadism-hearing loss-intellectual disability syndrome

ORPHA:3464

X-linked alpha-thalassemia-intellectual disability syndrome

ATR-X syndrome

ORPHA:847

X-linked intellectual disability-ataxia-apraxia syndrome

ORPHA:85338

X-linked intellectual disability-craniofacioskeletal syndrome

ORPHA:163979

X-linked intellectual disability-epilepsy syndrome

ORPHA:2076

X-linked intellectual disability-hypotonic face syndrome

ORPHA:73220

X-linked intellectual disability-plagiocephaly syndrome

Hyde Forster-McCarthy-Berry syndrome

ORPHA:2898

X-linked non-syndromic intellectual disability

ORPHA:777

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

ORPHA:1436