Rare Disease Library

Familial scaphocephaly syndrome, McGillivray type

Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome

2q37 microdeletion syndrome

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

Perniola-Krajewska-Carnevale syndrome

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

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

Aniridia-cerebellar ataxia-intellectual disability syndrome

Gillespie syndrome

Aniridia-intellectual disability syndrome

Walker-Dyson syndrome

ANK3-related intellectual disability-sleep disturbance syndrome

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

MRAMS 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

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 intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

Autosomal recessive chorioretinopathy-microcephaly syndrome

Autosomal recessive chorioretinopathy-microcephaly-intellectual disability 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

Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome

Cataract-hypertrichosis-intellectual disability syndrome

CAHMR syndrome

Cataract-intellectual disability-hypogonadism syndrome

Martsolf syndrome

Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome

CIMDAG 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

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

CLCN4-related X-linked intellectual disability syndrome

Raynaud-Claes syndrome

Craniodigital-intellectual disability syndrome

Scott craniodigital syndrome · Scott-Bryant-Graham syndrome

Cutis verticis gyrata-intellectual disability syndrome

McDowall syndrome

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

DNMT3A-related microcephalic dwarfism

HESJAS · Heyn-Sproul-Jackson syndrome

DYRK1A-related intellectual disability syndrome

DYRK1A syndrome

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

21q22.13q22.2 microdeletion syndrome · Del(21)(q22.13q22.2)

Dysequilibrium syndrome

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

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome

MN1 C-terminal truncation syndrome · MCTT

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2