Rare Disease Library

Rare genetic syndromic intellectual disability

Rare non-syndromic intellectual disability

Rare NSID

Rare syndromic intellectual disability

Richards-Rundle syndrome

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

Richieri Costa-da Silva syndrome

Myotonia-intellectual disability-skeletal anomalies syndrome

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Seizures-intellectual disability due to hydroxylysinuria syndrome

SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome

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

IQSEC2-related syndromic intellectual disability

Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

SIN3-related intellectual disability syndrome due to a point mutation

SMARCA2-related blepharophimosis-intellectual disability syndrome

Spastic paraplegia-epilepsy-intellectual disability syndrome

SPEMR

Spastic paraplegia-glaucoma-intellectual disability 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

Thumb stiffness-brachydactyly-intellectual disability syndrome

Piussan-Lenaerts-Mathieu syndrome

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Oliver-McFarlane syndrome · Long eyelashes-intellectual disability syndrome

Ulna hypoplasia-intellectual disability syndrome

White-Sutton syndrome

Intellectual disability-microcephaly-strabismus-behavioral abnormalities 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 cerebral-cerebellar-coloboma syndrome

X-linked intellectual disability, Kroes type

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome

X-linked intellectual disability-acromegaly-hyperactivity syndrome

X-linked intellectual disability-ataxia-apraxia syndrome

X-linked intellectual disability-epilepsy 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-psychosis-macroorchidism syndrome

Lindsay-Burn syndrome · PPM-X

X-linked intellectual disability-seizures-psoriasis syndrome

Tranebjaerg-Svejgaard syndrome

X-linked intellectual disability, Abidi type

X-linked intellectual disability, Brooks type

X-linked intellectual disability, Cabezas type

Cabezas syndrome

X-linked intellectual disability, Cilliers type

X-linked intellectual disability-microcephaly-testicular failure syndrome

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

X-linked intellectual disability, Pai type

X-linked intellectual disability, Schimke type

X-linked intellectual disability, Seemanova type

X-linked intellectual disability, Shashi type

Syndromic X-linked intellectual disability type 11

X-linked intellectual disability, Shrimpton type

MRXS9

X-linked intellectual disability, Siderius type

X-linked intellectual disability, Snyder type

Snyder-Robinson syndrome