| Alagille syndrome (AGS) | Open | Pubmed |
| Alport syndrome and diffuse leiomyomatosis | Open | Pubmed |
| Autoimmune lymphoproliferative syndrome | Open | Pubmed |
| Bannayan-Riley-Ruvalcaba syndrome | Open | Pubmed |
| Bazex-Dupré-Christol syndrome (BDCS) | Open | Pubmed |
| Carney triad | Open | Pubmed |
| Cartilage-hair hypoplasia (CHH) | Open | Pubmed |
| Chediak-Higashi Syndrome | Open | Pubmed |
| Cockayne syndrome | Open | Pubmed |
| Congenital myofibromatosis | Open | Pubmed |
| Congenital neutropenia | Open | Pubmed |
| Costello syndrome | Open | Pubmed |
| Currarino syndrome | Open | Pubmed |
| Dubowitz syndrome | Open | Pubmed |
| De Sanctis-Cacchione Syndrome | Open | Pubmed |
| Denys-Drash syndrome (DDS) | Open | Pubmed |
| Diamond-Blackfan anemia (DBA) | Open | Pubmed |
| Dianzani autoimmune lymphoproliferative disease (DALD) | Open | Pubmed |
| Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) | Open | Pubmed |
| Down syndrome | Open | Pubmed |
| Dysplastic nevus syndrome (DNS) | Open | Pubmed |
| Familial clear cell renal cancer | Open | Pubmed |
| Familial liver adenomatosis | Open | Pubmed |
| Familial Myeloproliferative Disorders | Open | Pubmed |
| Familial platelet disorder with predisposition to acute myelogenous leukemia | Open | Pubmed |
| Familial tylosis | Open | Pubmed |
| Familial monosomy 7 syndrome | Open | Pubmed |
| Familial nervous system tumour syndromes | Open | Pubmed |
| Familial chronic lymphocytic leukaemia | Open | Pubmed |
| Familial glioma | Open | Pubmed |
| Frasier syndrome (FS) | Open | Pubmed |
| Familial \/sporadic gastrointestinal stromal tumors (GISTs) | Open | Pubmed |
| Glomuvenous malformation (GVM) | Open | Pubmed |
| Glycogen storage disease type I (GSD I) | Open | Pubmed |
| Hemihyperplasia isolated | Open | Pubmed |
| Hereditary prostate cancer | Open | Pubmed |
| Hereditary desmoid disease. | Open | Pubmed |
| Holoprosencephaly-diencephalic hamartoblastoma (HDH). | Open | Pubmed |
| Klippel Trenaunay syndrome | Open | Pubmed |
| LEOPARD syndrome | Open | Pubmed |
| Lhermitte-Duclos disease | Open | Pubmed |
| Mosaic variegated aneuploidy syndrome | Open | Pubmed |
| MUTYH associated polyposis | Open | Pubmed |
| Maffucci syndrome | Open | Pubmed |
| Mulibrey nanism | Open | Pubmed |
| Multiple self-healing squamous epithelioma | Open | Pubmed |
| Nijmegen breakage syndrome | Open | Pubmed |
| Noonan syndrome | Open | Pubmed |
| Oculocutaneous Albinism | Open | Pubmed |
| Ollier disease | Open | Pubmed |
| Pagets disease of bone | Open | Pubmed |
| Pallister Hall syndrome (PHS) | Open | Pubmed |
| Perlman syndrome (renal hamartomas, nephroblastomatosis and fetal gigantism) | Open | Pubmed |
| Porokeratosis of Mibelli | Open | Pubmed |
| Prader Willi syndrome | Open | Pubmed |
| Proteus syndrome | Open | Pubmed |
| Rombo syndrome | Open | Pubmed |
| Rubinstein-Taybi syndrome (RTS) | Open | Pubmed |
| Schinzel-Giedion midface retraction syndrome | Open | Pubmed |
| Schöpf-Schulz-Passarge syndrome (SSPS) | Open | Pubmed |
| Shwachman-Diamond syndrome (SDS) | Open | Pubmed |
| Silver Russell syndrome | Open | Pubmed |
| Simpson-Golabi-Behmel syndrome | Open | Pubmed |
| Sotos syndrome (SOS) | Open | Pubmed |
| Stiff-person syndrome | Open | Pubmed |
| Trichothiodystrophy (TTD) | Open | Pubmed |
| Variegated aneuploidy related to premature centromere division (PCD) | Open | Pubmed |
| Waardenburg syndrome (WS) | Open | Pubmed |
| Weaver syndrome | Open | Pubmed |
| Wiskott-Aldrich Syndrome (WAS) | Open | Pubmed |
| X-linked thrombocytopenia (THC1\/XLT) | Open | Pubmed |
| X-linked lymphoproliferative disease (XLP) | Open | Pubmed |
| Epidermodysplasia verruciformis | Open | Pubmed |
| Piebaldism | Open | Pubmed |
| Rhabdoid predisposition syndrome | Open | Pubmed |