Rare Disease Library

SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome

SMARCA2-related blepharophimosis-intellectual disability syndrome

Spastic paraplegia-epilepsy-intellectual disability syndrome

SPEMR

Spastic paraplegia-glaucoma-intellectual disability syndrome

STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome

Syndromic X-linked intellectual disability 7

MRXS7 · X-linked intellectual disability, Ahmad type

Tall stature-intellectual disability-renal anomalies syndrome

Thauvin-Robinet-Faivre syndrome

TELO2-related intellectual disability-neurodevelopmental disorder

You-Hoover-Fong syndrome

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Oliver-McFarlane syndrome · Long eyelashes-intellectual disability syndrome

Ulna hypoplasia-intellectual disability syndrome

Witteveen-Kolk syndrome

SIN3A-related intellectual disability syndrome · WITKOS

Woodhouse-Sakati syndrome

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

X-linked alpha-thalassemia-intellectual disability syndrome

ATR-X syndrome

X-linked intellectual disability-ataxia-apraxia 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-macrocephaly-macroorchidism syndrome

Johnson syndrome

X-linked intellectual disability-plagiocephaly syndrome

Hyde Forster-McCarthy-Berry syndrome

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-spastic quadriparesis syndrome

X-linked intellectual disability, Shashi type

Syndromic X-linked intellectual disability type 11

X-linked non-syndromic intellectual disability

X-linked spasticity-intellectual disability-epilepsy syndrome