Rare Disease Library

Ramos-Arroyo syndrome

Corneal anesthesia-hearing loss-intellectual disability syndrome · Corneal anesthesia-deafness-intellectual disability syndrome

Rare syndromic intellectual disability

Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

Edwards-Sethi syndrome · Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome

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

Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome

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

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

IQSEC2-related syndromic intellectual disability

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome

Short ulna-dysmorphism-hypotonia-intellectual disability syndrome

SIN3-related intellectual disability syndrome due to a point mutation

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

SMARCA2-related blepharophimosis-intellectual disability syndrome

Tall stature-intellectual disability-renal anomalies syndrome

Thauvin-Robinet-Faivre syndrome

Temple-Baraitser syndrome

Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome · TMBTS

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 intellectual disability-ataxia-apraxia syndrome

X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome

Prieto-Badia-Mulas 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-retinitis pigmentosa syndrome

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

X-linked intellectual disability, Nascimento type

X-linked intellectual disability-nail dystrophy-seizures syndrome

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome