Rare Disease Library

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

12q14 microdeletion syndrome

Del(12)(q14) · Deletion 12q14

2q37 microdeletion syndrome

Albright hereditary osteodystrophy type 3 · Albright hereditary osteodystrophy-like 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

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

Devriendt-Vandenberghe-Fryns syndrome

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

AMME complex · AMME syndrome

Aniridia-cerebellar ataxia-intellectual disability syndrome

Gillespie syndrome

Aniridia-intellectual disability syndrome

Walker-Dyson syndrome

ANK3-related intellectual disability-sleep disturbance syndrome

Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

Aplastic anemia-intellectual disability-dwarfism syndrome

AMeD syndrome

Arachnodactyly-intellectual disability-dysmorphism syndrome

De Die-Smulders-Vles-Fryns syndrome

Ataxia-deafness-intellectual disability syndrome

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

Autosomal recessive distal osteolysis syndrome

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

Birk-Barel syndrome

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

Blepharophimosis-intellectual disability syndrome

Blepharophimosis-intellectual disability syndrome, SBBYS type

SBBYS variant of Ohdo syndrome · Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome

Blepharophimosis-intellectual disability syndrome, Verloes type

BMRS type V · BMRS, Verloes type

Cataract-hypertrichosis-intellectual disability syndrome

CAHMR syndrome

Cataract-intellectual disability-hypogonadism syndrome

Martsolf 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

CHD8 overgrowth syndrome

Chromodomain helicase DNA binding protein 8 overgrowth syndrome · CHD8-related intellectual disability-autism-macrocephaly-tall stature syndrome

Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

CLCN4-related X-linked intellectual disability syndrome

Raynaud-Claes syndrome

Craniodigital-intellectual disability syndrome

Scott craniodigital syndrome · Scott-Bryant-Graham syndrome

Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

Developmental delay-short stature-dysmorphic features-sparse hair syndrome · Loucks-Innes syndrome

Cryptorchidism-arachnodactyly-intellectual disability syndrome

Van Benthem-Driessen-Hanveld syndrome

Cutis verticis gyrata-intellectual disability syndrome

McDowall syndrome

Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome

Akesson syndrome

Deafness-intellectual disability syndrome, Martin-Probst type

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

Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome

Dentinogenesis imperfecta-short stature-deafness-intellectual disability 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

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

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

EAST syndrome

Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome · SeSAME syndrome

Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome

Hengel-Maroofian-Schols syndrome · BCAS3-related neurodevelopmental disorder

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

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

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

Growth delay-intellectual disability-hepatopathy syndrome

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