Rare Disease Library

Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome

2q37 microdeletion syndrome

Albright hereditary osteodystrophy type 3 · Albright hereditary osteodystrophy-like syndrome

3-methylglutaconic aciduria type 9

3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome · MGA9

ADNP-related blepharophimosis-intellectual disability syndrome

Allan-Herndon-Dudley syndrome

AHDS · MCT8 deficiency

Alopecia-contractures-dwarfism-intellectual disability syndrome

ACD-intellectual disability syndrome

Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

Shokeir syndrome

Alopecia-intellectual disability syndrome

Perniola-Krajewska-Carnevale syndrome

Aniridia-cerebellar ataxia-intellectual disability syndrome

Gillespie syndrome

Aniridia-intellectual disability syndrome

Walker-Dyson syndrome

Aniridia-ptosis-intellectual disability-familial obesity syndrome

ANK3-related intellectual disability-sleep disturbance syndrome

Aplastic anemia-intellectual disability-dwarfism syndrome

AMeD syndrome

Ataxia-deafness-intellectual disability syndrome

Reardon-Baraitser syndrome · Ataxia-hearing loss-intellectual disability syndrome

Autosomal recessive non-syndromic intellectual disability

AR-NSID · NS-ARID

Autosomal recessive spastic paraplegia type 11

Nakamura-Osame syndrome · SPG11

Birk-Barel syndrome

Intellectual disability-hypotonia-facial dysmorphism syndrome · Birk-Barel Intellectual Disability-Dimorphism syndrome

Blepharophimosis-intellectual disability syndrome

Blepharophimosis-intellectual disability syndrome, Verloes type

BMRS type V · BMRS, Verloes type

Cataract-hypertrichosis-intellectual disability syndrome

CAHMR syndrome

Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome

Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers · Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome

CLCN4-related X-linked intellectual disability syndrome

Raynaud-Claes syndrome

Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

ELOVL4-related neuro ichthyosis · Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Craniodigital-intellectual disability syndrome

Scott craniodigital syndrome · Scott-Bryant-Graham syndrome

Cutis verticis gyrata-intellectual disability syndrome

McDowall syndrome

De Barsy syndrome

Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type

Deafness-intellectual disability syndrome, Martin-Probst type

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

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

MED13L-related intellectual disability syndrome

Difference of sex development-intellectual disability syndrome

Verloes-Gillerot-Fryns syndrome · Disorder of sex development-intellectual disability syndrome

DYRK1A-related intellectual disability syndrome

DYRK1A syndrome

Growth delay due to insulin-like growth factor type 1 deficiency

Growth delay-hearing loss-intellectual disability syndrome · IGF-1 deficiency

Hair defect-photosensitivity-intellectual disability syndrome

Calderón-González-Cantu syndrome

Hennekam syndrome

Lymphedema-lymphangiectasia-intellectual disability syndrome

Hepatic fibrosis-renal cysts-intellectual disability syndrome

Thompson-Baraitser syndrome

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

Passwell-Goodman-Siprkowski syndrome

Intellectual disability-alacrima-achalasia syndrome

Intellectual disability-brachydactyly-Pierre Robin syndrome

Intellectual disability-cupped ears syndrome

Snijders Blok-Fisher syndrome

Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome

CTNNB1-related neurodevelopmental disorder · CTNNB1-NDD

Intellectual disability-hyperkinetic movement-truncal ataxia syndrome

Intellectual disability-spasticity-ectrodactyly syndrome

Jancar syndrome

Intellectual disability-strabismus syndrome

KDM5C-related syndromic X-linked intellectual disability

Laryngeal abductor paralysis-intellectual disability syndrome

Plott syndrome

Macrocephaly-intellectual disability-autism syndrome

MAN1B1-CDG

Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency · Congenital disorder of glycosylation type II due to MAN1B1 deficiency

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome