Rare Disease Library

Pseudoprogeria syndrome

Hal-Berg-Rudolph syndrome · Absent eyebrows and eyelashes-intellectual disability syndrome

12q14 microdeletion syndrome

Del(12)(q14) · Deletion 12q14

2q37 microdeletion syndrome

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

3p25.3 microdeletion syndrome

Del(3)p(25.3) · Intellectual disability-epilepsy-stereotypic hand movement syndrome

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

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

Devriendt-Vandenberghe-Fryns syndrome

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

ATR syndrome linked to chromosome 16 · ATR syndrome, deletion type

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

Aniridia-ptosis-intellectual disability-familial obesity syndrome

ANK3-related intellectual disability-sleep disturbance syndrome

Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

MRAMS syndrome

Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

Aplastic anemia-intellectual disability-dwarfism syndrome

AMeD syndrome

Arachnodactyly-abnormal ossification-intellectual disability syndrome

Kosztolanyi 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 dominant non-syndromic intellectual disability

Autosomal recessive distal osteolysis syndrome

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

Autosomal recessive non-syndromic intellectual disability

AR-NSID · NS-ARID

Aymé-Gripp syndrome

Brachycephaly-hearing loss-cataract-intellectual disability syndrome · Fine-Lubinsky syndrome

Birk-Barel syndrome

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

Blepharophimosis-intellectual disability syndrome

Blepharophimosis-intellectual disability syndrome, MKB type

BMRS, MKB type · BMRS, Maat-Kievit-Brunner type

Blepharophimosis-intellectual disability syndrome, Ohdo type

BMRS, Ohdo type · Blepharophimosis syndrome, Ohdo type

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

Borjeson-Forssman-Lehmann syndrome

BFLS · Intellectual disability-epilepsy-endocrine disorders syndrome

BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome

BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies · BPTF-related NEDDFL

Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome

ZBTB11-related neurodevelopmental disorder

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

CLCN4-related X-linked intellectual disability syndrome

Raynaud-Claes syndrome

Congenital muscular dystrophy with intellectual disability and severe epilepsy

CDG syndrome type Iu · CDG-Iu

Cooper-Jabs syndrome

Aural atresia-multiple congenital anomalies-intellectual disability syndrome

Cortical blindness-intellectual disability-polydactyly syndrome

Craniodigital-intellectual disability syndrome

Scott craniodigital syndrome · Scott-Bryant-Graham syndrome

Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome

TMCO1 defect 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