Alagille syndrome (AGS)
Alport syndrome and diffuse leiomyomatosis
Ataxia telangiectasia (A-T)
Autoimmune lymphoproliferative syndrome
Bannayan-Riley-Ruvalcaba syndrome
Bazex-Dupré-Christol syndrome (BDCS)
Beckwith-Wiedemann syndrome
Birt-Hogg-Dubé syndrome (BHDS)
Bloom syndrome
Brooke-Spiegler syndrome
Brutons agammaglobulinemia
Carney complex (CNC)
Carney triad
Cartilage-hair hypoplasia (CHH)
Chediak-Higashi Syndrome
Cockayne syndrome
Congenital myofibromatosis
Congenital neutropenia
Costello syndrome
Cowden disease
Currarino syndrome
De Sanctis-Cacchione Syndrome
Denys-Drash syndrome (DDS)
Diamond-Blackfan anemia (DBA)
Dianzani autoimmune lymphoproliferative disease (DALD)
Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH)
Down syndrome
Dubowitz syndrome
Dyskeratosis congenita (DKC)
Dysplastic nevus syndrome (DNS)
Epidermodysplasia verruciformis
Familial /sporadic gastrointestinal stromal tumors (GISTs)
Familial adenomatous polyposis (FAP)
Familial chronic lymphocytic leukaemia
Familial clear cell renal cancer
Familial glioma
Familial Juvenile Polyposis Syndrome
Familial liver adenomatosis
Familial melanoma
Familial monosomy 7 syndrome
Familial Myeloproliferative Disorders
Familial nervous system tumour syndromes
Familial platelet disorder with predisposition to acute myelogenous leukemia
Familial tylosis
Frasier syndrome (FS)
Glomuvenous malformation (GVM)
Glycogen storage disease type I (GSD I)
Hemihyperplasia isolated
Hereditary breast cancer
Hereditary desmoid disease.
Hereditary diffuse gastric cancer (HDGC)
Hereditary multiple cutaneous leiomyomatosis
Hereditary pancreatic cancer
Hereditary papillary renal cell carcinoma
Hereditary paraganglioma (PGL)
Hereditary prostate cancer
Holoprosencephaly-diencephalic hamartoblastoma (HDH).
Hyperparathyroidism-Jaw tumor syndrome (HPT-JT)
Klippel Trenaunay syndrome
LEOPARD syndrome
Lhermitte-Duclos disease
Li-Fraumeni syndrome
Lynch Syndrome
Maffucci syndrome
McCune Albright syndrome
Melanoma-Astrocytoma syndrome
Mosaic variegated aneuploidy syndrome
Mulibrey nanism
Multiple endocrine neoplasia type 1 (MEN1)
Multiple endocrine neoplasia type 2 (MEN2)
Multiple osteochondromas (MO)
Multiple self-healing squamous epithelioma
MUTYH associated polyposis
MUTYH-Associated Polyposis (MAP)
Neurofibromatosis type 1 (NF1)
Neurofibromatosis type 2 (NF2)
Nijmegen breakage syndrome
Noonan syndrome
Oculocutaneous Albinism
Ollier disease
Pagets disease of bone
Pallister Hall syndrome (PHS)
Perlman syndrome (renal hamartomas, nephroblastomatosis and fetal gigantism)
Peutz-Jeghers syndrome
Porokeratosis of Mibelli
Prader Willi syndrome
Proteus syndrome
Retinoblastoma (hereditary predisposition)
Rhabdoid predisposition syndrome
Rombo syndrome
Rothmund-Thomson syndrome (RTS)
Rubinstein-Taybi syndrome (RTS)
Schöpf-Schulz-Passarge syndrome (SSPS)
Schinzel-Giedion midface retraction syndrome
Shwachman-Diamond syndrome (SDS)
Silver Russell syndrome
Simpson-Golabi-Behmel syndrome
Sotos syndrome (SOS)
Stiff-person syndrome
Sturge Weber syndrome
Trichothiodystrophy (TTD)
Tuberous sclerosis (TSC)
Turcot syndrome
Variegated aneuploidy related to premature centromere division (PCD)
Von Hippel-Lindau
Waardenburg syndrome (WS)
WAGR (Wilms tumor/aniridia/genitourinary anomalies/mental retardation syndrome)
Weaver syndrome
Werner syndrome
Wiskott-Aldrich Syndrome (WAS)
X-linked lymphoproliferative disease (XLP)
X-linked thrombocytopenia (THC1/XLT)
Xeroderma pigmentosum