Rare Disease Library

X-linked intellectual disability, Najm type

MICPCH · X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome

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

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

Aplastic anemia-intellectual disability-dwarfism syndrome

AMeD syndrome

Ataxia-deafness-intellectual disability syndrome

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

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome

Poretti-Boltshauser syndrome

Atkin-Flaitz syndrome

X-linked intellectual disability, Atkin type

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome

Autosomal recessive chorioretinopathy-microcephaly syndrome

Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

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

CAMOS syndrome

Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome · SCAR5

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

Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome

Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome

FOSL2-related neurodevelopmental disorder

Craniodigital-intellectual disability syndrome

Scott craniodigital syndrome · Scott-Bryant-Graham syndrome

Craniosynostosis-microretrognathia-severe intellectual disability 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

DNMT3A-related microcephalic dwarfism

HESJAS · Heyn-Sproul-Jackson syndrome

DYRK1A-related intellectual disability syndrome

DYRK1A syndrome

Dysequilibrium syndrome

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

Familial scaphocephaly syndrome, McGillivray type

Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome

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

Filippi syndrome

Type 1 syndactyly-microcephaly-intellectual disability syndrome

Genitopatellar syndrome

Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome

Hennekam syndrome

Lymphedema-lymphangiectasia-intellectual disability syndrome

HSD10 disease, atypical type

HSD10 deficiency, atypical type · Syndromic X-linked intellectual disability type 10

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Hypogonadism-mitral valve prolapse-intellectual disability syndrome

Cantalamessa-Baldini-Ambrosi syndrome

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Shaheen syndrome

Hypospadias-intellectual disability, Goldblatt type syndrome

Goldblatt-Wallis syndrome