Rare Disease Library

Cryptorchidism-arachnodactyly-intellectual disability syndrome

Van Benthem-Driessen-Hanveld 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

Digital anomalies-intellectual disability-short stature 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

Early-onset epilepsy-intellectual disability-brain anomalies syndrome

Congenital disorder of glycosylation due to PIGG deficiency · PIGG-CDG

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

Hamamy 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

Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Genetic multiple congenital anomalies-intellectual disability with or without dysmorphism

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

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

Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability 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

Hernández-Aguirre Negrete syndrome

Intellectual disability-epilepsy-bulbous nose syndrome

Hidrotic ectodermal dysplasia, Halal type

Halal-Setton-Wang syndrome · Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome

HSD10 disease, atypical type

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

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Intellectual disability syndrome due to a DYRK1A point mutation

DYRK1A-related intellectual disability syndrome due to a point mutation

Intellectual disability-alacrima-achalasia syndrome

Intellectual disability-balding-patella luxation-acromicria syndrome

Scholte-Begeer-van Essen syndrome

Intellectual disability-brachydactyly-Pierre Robin syndrome

Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome

Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

Autosomal recessive spinocerebellar ataxia type 20 · Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome

Intellectual disability-cupped ears syndrome

Snijders Blok-Fisher syndrome

Intellectual disability-early-onset cataract-microcephaly syndrome

Baralle-Macken syndrome

Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome

Den Hoed-De Boer-Voisin syndrome

Intellectual disability-epilepsy-extrapyramidal syndrome

Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome

CTNNB1-related neurodevelopmental disorder · CTNNB1-NDD

Intellectual disability-facial dysmorphism-hand anomalies syndrome

Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome

KMT5B haploinsufficiency neurodevelopmental disorder

Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

PPP2R5D-related neurodevelopmental disorder · Houge-Janssens syndrome type 1

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

Autosomal recessive intellectual disability due to TRAPPC9 deficiency

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

MOMES syndrome

Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome

Skraban-Deardorff syndrome

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

MCAHS type 3 · Multiple congenital anomalies-hypotonia-seizures syndrome type 3

Intellectual disability-seizures-macrocephaly-obesity syndrome

Der(8)t(8;12)

Intellectual disability-spasticity-ectrodactyly syndrome

Jancar syndrome