Multipele congenitale afwijkingen (MCA)

3M syndroom

Aangeboren contracturen van de ledematen en het gezicht

acrocallosale syndroom

Acrofaciale dysostose

AEC syndroom

Alstrom syndroom

Angelman syndroom

Arthrogrypose, renal dysfunctie en cholestase

Arts syndroom

Asphyxiating thoracic dystrophy (Jeune syndroom)

Bannayan-Riley-Ruvalcaba syndroom

Baraitser-Winter syndroom

Bardet-Biedl syndroom

Basal cell nevus syndroom

Blepharophimosis, epicantus inversus en ptosis

Bohring-Opitz syndroom

Branchio-oculo-facio syndroom (BOF)

Brittle cornea syndroom

Brunner syndroom

Campomele dysplasie

Cardio-Facio-Cutaneous syndroom (CFC)

Cerebrooculofacioskeletal syndroom

CHARGE Syndroom

CHILD syndroom

Chondrodysplasie punctata

Ciliopathieen (WES)

CNV in WES / SNP-based array

Cockayne syndroom

Coffin-Lowry syndroom

Coffin-Siris syndroom

Cohen syndroom

Congenitaal cataract met faciale dysmorfien en neuropathie

Congenitale gehoorgangatresie

Cornelia de Lange syndroom

Costello syndroom

Craniofaciale afwijkingen (WES)

Donnai-Barrow syndroom

Dravet syndroom

Duane-radial ray syndroom

Epilepsie met neuronale aanlegstoornis

Erfelijke aangeboren facialis parese

Faciogenitale dysplasie (Aarskog-Scott syndroom)

Familiaire hyperfosfatemische tumorale calcinose

Fibrochondrogenese

Floating-Harbor syndroom

Frank-Ter Haar syndroom

Galloway-Mowat syndrome

Geleofysische dysplasie

Genito-patella syndroom

Geroderma osteodysplasticum

Glycosyleringsdefect, congenitaal

GM1-gangliosidose

Guttmacher syndroom

Hartsfield syndroom

Hidrotische Ectodermale Dysplasie (Clouston)

Holoprosencefalie

Hydrolethalus syndroom

Hypertrofische osteoarthropathie, primair

IVIC syndroom

Joubert syndroom

Kabuki syndroom

KBG syndroom

Kleefstra Syndroom (Chr 9q deletie)

Koolen-de Vries syndroom

Korte rib thoracale dysplasie

Korte rib-polydactylie syndroom

koude-geinduceerd zweten syndroom

Legius syndroom

LEOPARD syndroom

Limb-Mammary syndroom

Loeys-Dietz syndroom

Lujan-Fryns syndroom

Lymfatische afwijkingen

macrocefalie / megalencefalie syndroom

MACS (Macrocefalie alopecia cutis laxa scoliosis)

Mandibulofaciale dysostose

Marinesco-Sjögren syndroom

Marshall-Smith syndroom

McKusick-Kaufman syndroom

Meckel syndroom

Meervoudig pterygium syndroom

Mendelian inherited disorders (WES)

Microphthalmie, geisoleerd

Microphthalmie, syndromaal

Microtie met gehoorverlies en gespleten gehemelte

Mowat-Wilson syndroom

Muscle-Eye-Brain disease

Myastheen syndroom

Nance-Horan Syndroom

Nijmegen Breuk Syndroom

Noonan syndroom / RASopathieën

Norrie, ziekte van

Oculo-digito-oesophagoduodenal syndroom (Feingold)

Ohdo syndroom

Opitz G/BBB syndroom

Opitz-Kaveggia syndroom

Orofaciale schisis

Orofaciodigital syndroom

Osteopathie striata met craniale sclerose

Otospondylomegaepiphyseale dysplasie

Paget, ziekte van

Perlman syndroom

Peters-plus syndroom

Pitt-Hopkins syndroom (PTHS)

Polysyndactylie

Pontocerebellaire hypoplasie

Prader-Willi syndroom

PTEN Hamartoma Tumor Syndroom

Rapp-Hodgkin syndroom

Rett Syndroom

Roberts syndroom

Robinow syndroom

Rothmund-Thomson syndroom

Schaaf-Yang syndroom

Schinzel-Giedion syndroom

Schisis (WES)

Sensenbrenner syndroom

SeSAME syndroom

SHORT syndroom

Simpson-Golabi-Behmel syndroom

Sjogren-Larsson syndroom

Smith-Magenis syndroom

Smith-McCort dysplasie

Split hand/foot malformation (SFHM)

Spondylocostale dysostose

Spondyloepimetafysaire dysplasie

Spondyloepimetafysaire dysplasie

Spondyloepiphyseale dysplasie

Stickler syndroom

Stuve-Wiedemann syndroom / Schwartz-Jampel type 2 syndroom

Thrombocytopenia-Absent Radius (TAR) syndroom

Townes-Brocks syndroom

TP63 - gerelateerd

Treacher Collins Syndroom

Trismus pseudocamptodactylie syndroom

Ulnar mammary syndroom

van der Woude syndroom 2

Verstandelijke beperking, autosomaal dominant

Verstandelijke beperking, autosomaal recessief

Verstandelijke beperking, syndromaal

Verstandelijke beperking, X-gebonden

Vertraagde tanderuptie

Vici syndroom

Walker-Warburg (-like) Syndroom

Weaver syndroom

Weill-Marchesani syndroom

Werner syndroom

Wiedemann-Steiner syndroom

ziekte van Menkes