Rare Disease Library

Keppen-Lubinsky syndrome

Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome

Allan-Herndon-Dudley syndrome

AHDS · MCT8 deficiency

Alopecia-contractures-dwarfism-intellectual disability syndrome

ACD-intellectual disability syndrome

Alopecia-intellectual disability syndrome

Perniola-Krajewska-Carnevale syndrome

Aniridia-intellectual disability syndrome

Walker-Dyson syndrome

Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome · Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome

Autosomal recessive distal osteolysis syndrome

Distal osteolysis-short stature-intellectual disability syndrome · Petit-Fryns syndrome

Blepharophimosis-intellectual disability syndrome

Congenital muscular dystrophy-cataract-intellectual disability syndrome

INPP5K-related syndrome

Craniosynostosis-microretrognathia-severe intellectual disability syndrome

Deafness-intellectual disability syndrome, Martin-Probst type

X-linked hearing loss-intellectual disability syndrome · Martin-Probst syndrome

Digital anomalies-intellectual disability-short stature syndrome

DNMT3A-related microcephalic dwarfism

HESJAS · Heyn-Sproul-Jackson syndrome

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

DYRK1A-related intellectual disability syndrome

DYRK1A syndrome

Dysequilibrium syndrome

CAMRQ syndrome · Non-progressive cerebellar ataxia-intellectual disability syndrome

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

Intellectual disability-cupped ears syndrome

Snijders Blok-Fisher syndrome

Intellectual disability-short stature-hypertelorism syndrome

Stoll-Géraudel-Chauvin syndrome

Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome

BCL11B-related neurodevelopmental disorder

Intellectual disability-strabismus syndrome

Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome

Late-onset localized JEB-intellectual disability syndrome

Lipodystrophy-intellectual disability-deafness syndrome

Rajab-Spranger syndrome · Lipodystrophy-intellectual disability-hearing loss syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

MORM syndrome

Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome

OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-intellectual disability due to POMT1 syndrome

OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome

Optic atrophy-intellectual disability syndrome

BBSOAS · Bosch-Boonstra-Schaaf optic atrophy 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

POMT1-related limb-girdle muscular dystrophy R11

Autosomal recessive limb-girdle muscular dystrophy type 2K · POMT1-related LGMD R11

Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome

Proximal Xq28 duplication syndrome

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

Rare genetic syndromic intellectual disability

Rare syndromic intellectual disability

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

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

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

Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

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

Richieri Costa-Guion Almeida 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

Urban-Rogers-Meyer syndrome

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

Witteveen-Kolk syndrome

SIN3A-related intellectual disability syndrome · WITKOS

X-linked intellectual disability-ataxia-apraxia syndrome

X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome

Prieto-Badia-Mulas syndrome