Rare Disease Library

Rare syndromic intellectual disability

Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome

Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

IDMDC

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

Sacral hemangiomas-multiple congenital abnormalities syndrome

Seizures-intellectual disability due to hydroxylysinuria syndrome

Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome

Neurodevelopmental disorder with hearing loss and spastic quadriplegia · Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome

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

Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome

Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia

Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome

Richieri Costa-Guion Almeida syndrome

Spastic paraplegia-epilepsy-intellectual disability syndrome

SPEMR

Spastic paraplegia-glaucoma-intellectual disability syndrome

Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome

SHILCA 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

Thakker-Donnai syndrome

Dysmorphism-multiple structural anomalies syndrome

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Oliver-McFarlane syndrome · Long eyelashes-intellectual disability syndrome

Ulna hypoplasia-intellectual disability syndrome

Urban-Rogers-Meyer syndrome

Intellectual disability-short stature-hand contractures-genital anomalies syndrome · Prader-Willi habitus-osteopenia-camptodactyly syndrome

WAGR syndrome

Del(11)(p13) · Deletion 11p13

White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

Curatolo-Cilio-Pessagno syndrome

White-Sutton syndrome

Intellectual disability-microcephaly-strabismus-behavioral abnormalities 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 intellectual disability-ataxia-apraxia syndrome

X-linked intellectual disability-cerebellar hypoplasia syndrome

OPHN1 syndrome · Oligophrenin-1 syndrome

X-linked intellectual disability-craniofacioskeletal syndrome

X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome

Prieto-Badia-Mulas syndrome

X-linked intellectual disability-epilepsy syndrome

X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome

X-linked intellectual disability-seizures-psoriasis syndrome

Tranebjaerg-Svejgaard syndrome

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome