Rare Disease Library

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

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

IQSEC2-related syndromic intellectual disability

Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome

Severe X-linked intellectual disability, Gustavson type

Gustavson syndrome

SMARCA2-related blepharophimosis-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

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Oliver-McFarlane syndrome · Long eyelashes-intellectual disability syndrome

Ulna hypoplasia-intellectual disability syndrome

Vasquez-Hurst-Sotos syndrome

Hypogonadism-gynecomastia-X-linked intellectual disability 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 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 female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability

X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

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-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome

X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome

X-linked intellectual disability-craniofacioskeletal syndrome

X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome

Pettigrew Syndrome

X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome

Prieto-Badia-Mulas syndrome

X-linked intellectual disability-epilepsy syndrome

X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome

X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome

Young-Hughes syndrome

X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior 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-monoamine oxidase A metabolism anomaly 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