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"

99 matching diseasesClear search ×

OBSOLETE: X-linked intellectual disability, Wittner type

ORPHA:3064

Optic atrophy-intellectual disability syndrome

BBSOAS · Bosch-Boonstra-Schaaf optic atrophy syndrome

ORPHA:401777

Pinsky-Di George-Harley syndrome

Microphthalmia-intellectual disability syndrome

ORPHA:2895

Proximal Xq28 duplication syndrome

MECP2 duplication syndrome · X-linked intellectual disability syndrome, Lubs type

ORPHA:1762

Rare genetic intellectual disability

ORPHA:183757

Rare genetic syndromic intellectual disability

ORPHA:183763

Rare intellectual disability

ORPHA:87277

Rare non-syndromic intellectual disability

Rare NSID

ORPHA:101685

Rare syndromic intellectual disability

ORPHA:102369

Renpenning syndrome

X-linked intellectual disability due to PQBP1 mutations · X-linked intellectual disability, Renpenning type

ORPHA:3242

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

IQSEC2-related syndromic intellectual disability

ORPHA:397933

Severe X-linked intellectual disability, Gustavson type

Gustavson syndrome

ORPHA:3078

Syndromic X-linked intellectual disability 7

MRXS7 · X-linked intellectual disability, Ahmad type

ORPHA:85274

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Oliver-McFarlane syndrome · Long eyelashes-intellectual disability syndrome

ORPHA:3363

Ulna hypoplasia-intellectual disability syndrome

ORPHA:2249

Witteveen-Kolk syndrome

SIN3A-related intellectual disability syndrome · WITKOS

ORPHA:500163

X-linked cerebral-cerebellar-coloboma syndrome

X-linked intellectual disability, Kroes type

ORPHA:163961

X-linked intellectual disability due to GRIA3 mutations

ORPHA:364028

X-linked intellectual disability, Abidi type

ORPHA:85273

X-linked intellectual disability, Armfield type

Armfield syndrome

ORPHA:85276

X-linked intellectual disability, Brooks type

ORPHA:3056

X-linked intellectual disability, Cabezas type

Cabezas syndrome

ORPHA:85293

X-linked intellectual disability, Cantagrel type

ORPHA:85277

X-linked intellectual disability, Cilliers type

X-linked intellectual disability-microcephaly-testicular failure syndrome

ORPHA:163971

X-linked intellectual disability, Fichera type

ORPHA:93944

X-linked intellectual disability, Golabi-Ito-Hall type

ORPHA:93947

X-linked intellectual disability, Gu type

MRX35

ORPHA:3059

X-linked intellectual disability, Hedera type

MRXSH

ORPHA:93952

X-linked intellectual disability, Miles-Carpenter type

ORPHA:85283

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, Pai type

ORPHA:85322

X-linked intellectual disability, Porteous type

ORPHA:93945

X-linked intellectual disability, Raymond type

ORPHA:163953

X-linked intellectual disability, Schimke type

ORPHA:85285

X-linked intellectual disability, Seemanova type

ORPHA:85323

X-linked intellectual disability, Shashi type

Syndromic X-linked intellectual disability type 11

ORPHA:85286

X-linked intellectual disability, Shrimpton type

MRXS9

ORPHA:85324

X-linked intellectual disability, Siderius type

ORPHA:85287

X-linked intellectual disability, Snyder type

Snyder-Robinson syndrome

ORPHA:3063

X-linked intellectual disability, Stevenson type

ORPHA:85325

X-linked intellectual disability, Stocco Dos Santos type

ORPHA:85288

X-linked intellectual disability, Stoll type

ORPHA:85326

X-linked intellectual disability, Sutherland-Haan type

ORPHA:93950

X-linked intellectual disability, Turner type

ORPHA:85328

X-linked intellectual disability, Van Esch type

ORPHA:163976

X-linked intellectual disability, Vitale type

ORPHA:85289

X-linked intellectual disability, Wilson type

ORPHA:85290