Multiple congenital anomalies (MCA)

3M Syndrome

acrocallosal syndrome

Acrofacial dysostosis

AEC syndrome

Alstrom syndrome

Angelman syndrome

Arthrogryposis renal dysfuntion and cholestasis

Arts syndrome

Asphyxiating thoracic dystrophy (Jeune syndrome)

Bannayan-Riley-Ruvalcaba syndrome

Baraitser-Winter syndrome

Bardet-Biedl syndrome

Basal cell nevus syndrome

Blepharophimosis, epicantus inversus and ptosis

Bohring-Opitz syndrome

Branchio-oculo-facio syndrome (BOF)

Brittle cornea syndrome

Brunner syndrome

Campomelic dysplasia

Cardio-Facio-Cutaneous syndrome (CFC)

Cerebrooculofacioskeletal syndrome

CHARGE syndrome

CHILD syndrome

Chondrodysplasia punctata

Ciliopathies (WES)

Cockayne syndrome

Coffin-Lowry syndrome

Coffin-Siris syndrome

Cohen syndrome

Cold-induced sweating syndrome

Congenital aural atresia (CAA)

Congenital cataracts with facial dysmorphism and neuropathy

Congenital contractures of the limbs and face (CLIFAHDD)

Congenital disorder of glycosylation

Cornelia de Lange syndrome

Costello syndrome

Craniofacial anomalies (WES)

Donnai-Barrow syndrome

Dravet syndrome

Duane-radial ray syndrome

Epilepsy with neurodevelopmental defects (EPND)

Faciogenital dysplasia (Aarskog-Scott syndrome)

Familial hyperphosphatemic tumoral calcinosis

Fibrochondrogenesis

Floating-Harbor syndrome

Frank-Ter Haar syndrome

Galloway-Mowat syndrome

Geleophysic dysplasia

Genitopatellar syndrome

Geroderma osteodysplasticum

GM1-gangliosidosis

Guttmacher syndrome

Hartsfield syndrome

Hereditary congenital facial paresis

Hidrotic Ectodermal Dysplasia (Clouston)

Holoprosencephaly

Hydrolethalus syndrome

Hypertrophic osteoarthropathy, primary

Intellectual disability, autosomal dominant

Intellectual disability, autosomal recessive

Intellectual disability, syndromal

Intellectual disability, X-linked

IVIC syndrome

Joubert syndrome

Kabuki syndrome

KBG syndrome

Kleefstra syndrome (Chr 9q deletion)

Koolen-De Vries syndrome

Legius syndrome

LEOPARD syndrome

Limb-Mammary syndrome

Loeys-Dietz syndrome

Lujan-Fryns syndrome

macrocephaly / megalencephaly syndrome

MACS (Macrocefalic alopecia cutis laxa scoliosis)

Mandibulofacial dysostosis

Marinesco-Sjögren syndrome

Marshall-Smith syndrome

McKusick-Kaufman syndrome

Meckel syndrome

Mendelian inherited disorders (WES)

Menkes disease

Microphtalmia, syndromic

Microphthalmia, isolated

Microtia, hearing impairment, and cleft palate

Mowat-Wilson syndrome

Multiple pterygium syndrome

Muscle-Eye-Brain disease

Myasthenic syndrome

Nance-Horan Syndrome

Nijmegen breakage syndrome (NBS)

Noonan syndrome / RASopathy

Norrie disease

Oculo-digito-esophageal-duodenal syndrome (Feingold)

Ohdo syndrome

Opitz G/BBB syndrome

Opitz-Kaveggia syndrome

Orofacial cleft

Orofacial clefting (WES)

Orofaciodigital syndrome

Osteopathia striata with cranial sclerosis

Otospondylomegaepiphyseal dysplasia

Paget disease of bone 3

Perlman syndrome

Peters-plus syndrome

Pitt-Hopkins syndrome (PTHS)

Polysyndactyly

Pontocerebellar hypoplasia

Prader-Willi syndrome

Primary failure of tooth eruption

PTEN Hamartoma Tumor syndrome

Rapp-Hodgkin syndrome

Rett syndrome

Roberts syndrome

Robinow syndrome

Rothmund-Thomson syndrome

Schaaf-Yang syndrome

Schinzel-Giedion syndrome

Sensenbrenner syndrome

SeSAME syndrome

Short rib polydactyly syndrome

SHORT syndrome

Short-rib thoracic dysplasia

Simpson-Golabi-Behmel syndrome

Sjogren-Larsson syndrome

Smith-Magenis syndrome

Smith-McCort dysplasia

SNP array

Split hand/foot malformation (SFHM)

Spondylocostal dysostosis

Spondyloepimetaphysal dysplasia

Spondyloepimetaphysal dysplasia

Spondyloepiphyseal dysplasia

Stickler syndrome

Stuve-Wiedemann syndrome / Schwartz-Jampel type 2 syndrome

Thrombocytopenia-Absent Radius (TAR) syndrome

Townes-Brocks syndrome

TP63 related disorders

Treacher Collins-Franceschetti syndrome

Trismus pseudocamptodactyly syndrome

Ulnar-mammary syndrome

van der Woude syndrome 2

Vici syndrome

Walker-Warburg (-like) syndrome

Weaver syndrome

Weill-Marchesani syndrome

Werner syndrome

Wiedemann-Steiner syndrome