Rare Disease Library

Proximal Xq28 duplication syndrome

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

Rare genetic intellectual disability

Rare genetic syndromic intellectual disability

Rare intellectual disability

Rare non-syndromic intellectual disability

Rare NSID

Rare syndromic intellectual disability

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

IQSEC2-related syndromic intellectual disability

Severe X-linked intellectual disability, Gustavson type

Gustavson syndrome

Syndromic X-linked intellectual disability 7

MRXS7 · X-linked intellectual disability, Ahmad type

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Oliver-McFarlane syndrome · Long eyelashes-intellectual disability syndrome

Vasquez-Hurst-Sotos syndrome

Hypogonadism-gynecomastia-X-linked intellectual disability syndrome

Wilson-Turner syndrome

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

Witteveen-Kolk syndrome

SIN3A-related intellectual disability syndrome · WITKOS

X-linked alpha-thalassemia-intellectual disability syndrome

ATR-X syndrome

X-linked cerebral-cerebellar-coloboma syndrome

X-linked intellectual disability, Kroes type

X-linked intellectual disability due to GRIA3 mutations

X-linked intellectual disability with isolated growth hormone deficiency

MRGH

X-linked intellectual disability-acromegaly-hyperactivity syndrome

X-linked intellectual disability-ataxia-apraxia syndrome

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

X-linked intellectual disability-cerebellar hypoplasia syndrome

OPHN1 syndrome · Oligophrenin-1 syndrome

X-linked intellectual disability-craniofacioskeletal syndrome

X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome

Prieto-Badia-Mulas syndrome

X-linked intellectual disability-epilepsy syndrome

X-linked intellectual disability-hypotonia-movement disorder syndrome

X-linked intellectual disability-hypotonic face syndrome

X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency

X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome

X-linked intellectual disability-plagiocephaly syndrome

Hyde Forster-McCarthy-Berry syndrome

X-linked intellectual disability-psychosis-macroorchidism syndrome

Lindsay-Burn syndrome · PPM-X

X-linked intellectual disability-retinitis pigmentosa syndrome

Aldred syndrome · Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion

X-linked intellectual disability-seizures-psoriasis syndrome

Tranebjaerg-Svejgaard syndrome

X-linked intellectual disability-short stature-overweight syndrome

X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

Arena syndrome

X-linked intellectual disability-spastic quadriparesis syndrome

X-linked intellectual disability, Abidi type

X-linked intellectual disability, Armfield type

Armfield syndrome

X-linked intellectual disability, Brooks type

X-linked intellectual disability, Cabezas type

Cabezas syndrome

X-linked intellectual disability, Cantagrel type

X-linked intellectual disability, Cilliers type

X-linked intellectual disability-microcephaly-testicular failure syndrome

X-linked intellectual disability, Fichera type

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

X-linked intellectual disability, Gu type

MRX35

X-linked intellectual disability, Hedera type

MRXSH

X-linked intellectual disability, Miles-Carpenter type

X-linked intellectual disability, Najm type

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