Rare Disease Library

OBSOLETE: Trichodermal syndrome-intellectual disability syndrome

OBSOLETE: Katsantoni-Papadakou Lagoyanni syndrome

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome

BRPF1-related neurodevelopmental disorder

Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome

Levic-Stefanovic-Nikolic syndrome

Optic atrophy-intellectual disability syndrome

BBSOAS · Bosch-Boonstra-Schaaf optic atrophy syndrome

Pachygyria-intellectual disability-epilepsy syndrome

Kuzniecky syndrome

Partington syndrome

Partington-Mulley syndrome · X-linked intellectual disability-dystonia-dysarthria syndrome

PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

Chung-Jansen syndrome · DIDOD

Pinsky-Di George-Harley syndrome

Microphthalmia-intellectual disability syndrome

Pitt-Rogers-Danks syndrome

Intellectual disability-dysmorphism-intrauterine growth retardation syndrome

Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN

Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective Rabenosyn-5

Proximal Xq28 duplication syndrome

MECP2 duplication syndrome · X-linked intellectual disability syndrome, Lubs type

Ramos-Arroyo syndrome

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

Rare syndromic intellectual disability

Richards-Rundle syndrome

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

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

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

Short ulna-dysmorphism-hypotonia-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

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 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-ataxia-apraxia syndrome

X-linked intellectual disability-craniofacioskeletal syndrome

X-linked intellectual disability-cubitus valgus-dysmorphism 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-global development delay-facial dysmorphism-sacral caudal remnant syndrome

X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome

X-linked intellectual disability-hypotonic face syndrome

X-linked intellectual disability, Nascimento type

X-linked intellectual disability-nail dystrophy-seizures syndrome

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

ZTTK syndrome

Zhu-Tokita-Takenouchi-Kim syndrome · Facial dysmorphism-brain malformations-musculoskeletal abnormalities-intellectual disability syndrome