Intellectual Disability

Angelman syndrome

Bannayan-Riley-Ruvalcaba syndrome

Bardet-Biedl syndrome

Blepharophimosis-ptosis-intellectual disability syndrome

Cardio-Facio-Cutaneous syndrome (CFC)

CHARGE syndrome

CHILD syndrome

CNV in WES / SNP-based array

Cockayne syndrome

Coffin-Lowry syndrome

Coffin-Siris syndrome

Cohen syndrome

Congenital disorder of glycosylation

Cornelia de Lange syndrome

Costello syndrome

Cowden syndrome

Donnai-Barrow syndrome

Early infantile epileptic encephalopathy (EIEE)

Faciogenital dysplasia (Aarskog-Scott syndrome)

Floating-Harbor syndrome

Fragile X syndrome (FraX)

Frank-Ter Haar syndrome

Galloway-Mowat syndrome

Geleophysic dysplasia

Genitopatellar syndrome

Glutathione synthetase deficiency

GM1-gangliosidosis

Hyperfosfatasemia with intellectual disability

Hypochondroplasia

Intellectual disability with genome wide CNV analysis

Intellectual disability, autosomal dominant

Intellectual disability, autosomal recessive

Intellectual disability, syndromal

Intellectual disability, X-linked

Joubert syndrome

Kabuki syndrome

KBG syndrome

Kleefstra syndrome (Chr 9q deletion)

Koolen-De Vries syndrome

Legius syndrome

LEOPARD syndrome

Lujan-Fryns syndrome

Mabry syndrome

MACS (Macrocefalic alopecia cutis laxa scoliosis)

Martsolf syndrome

Meckel syndrome

Microcephaly, chorioretinopathy, lymphedema, MR

Microcephaly-capillary malformation syndrome

Microphtalmia, syndromic

Mowat-Wilson syndrome

Myhre syndrome

Nijmegen breakage syndrome (NBS)

Noonan syndrome / RASopathy

Norrie disease

Oculo-digito-esophageal-duodenal syndrome (Feingold)

Ohdo syndrome

Opitz-Kaveggia syndrome

Orofaciodigital syndrome

Peters-plus syndrome

Prader-Willi syndrome

ReNU syndrome

Rett syndrome

Rothmund-Thomson syndrome

Schaaf-Yang syndrome

Simpson-Golabi-Behmel syndrome

Sotos syndrome

Vici syndrome