SE-ATLAS

Chondrodysplasie métaphysaire autosomique récessive Syndrome de Treacher-Collins Syndrome de Bowen-Conradi Néoplasie endocrinienne multiple Néoplasie endocrinienne multiple type 4 Cancer du côlon héréditaire non polyposique Prédisposition au développement de tumeurs liée à BAP1 Léiomyomatose familiale et cancer du rein Syndrome de Saethre-Chotzen Syndrome de Schinzel-Giedion Syndrome de Perlman Déficit immunitaire commun variable Syndrome de Shwachman-Diamond Syndrome de Silver-Russell Syndrome de Peutz-Jeghers Syndrome tumoral hamartomateux lié à PTEN Cancer familial papillaire de la thyroïde avec néoplasie rénale papillaire Maladie de Fanconi Syndrome de Li-Fraumeni Syndrome familial des naevus atypiques Syndrome de Silver-Russell dû à une mutation ponctuelle Cancer de l'ovaire, forme familiale Maladie leucoproliférative auto-immune associée à RAS Syndrome de Rubinstein-Taybi Syndrome de prédisposition au cancer-oligodontie Syndrome d'aneuploïdie en mosaïque Syndrome d'hyperparathyroïdie-tumeur mandibulaire Syndrome héréditaire de prédisposition aux cancers rénaux Cancer médullaire de la thyroïde familial Syndrome neurodégénératif progressif avec photosensibilité associé à PCNA Angiomatose cutanée et digestive Syndrome de Beckwith-Wiedemann Maladie d'Ollier Syndrome de Simpson-Golabi-Behmel Sclérose tubéreuse de Bourneville Syndrome de déficit constitutionnel de la réparation des mésappariements Syndrome héréditaire de prédisposition aux cancers de l'appareil digestif Déficit immunitaire combiné par déficit en OX40 Polypose adénomateuse familiale atténuée Syndrome de Maffucci Epidermodysplasie verruciforme Syndrome polymalformatif génétique à risque de développer un cancer Syndrome de Gardner Anémie de Blackfan-Diamond Syndrome N Syndrome de polypose intestinale Syndrome de McCune-Albright Syndrome d'Alagille Syndrome lymphoprolifératif auto-immun avec infections virales récurrentes Syndrome de Muir-Torre Maladie de von Hippel-Lindau Hémihyperplasie isolée Schwannomatose liée à NF2 germinale Syndrome de Rothmund-Thomson type 2 Syndrome de Beckwith-Wiedemann dû à une microduplication 11p15 Syndrome de Gorlin Syndrome de Frasier Syndrome de Werner Néoplasie endocrinienne multiple type 2A Polypose mixte héréditaire Syndrome Proteus-like Carcinome rénal héréditaire à cellules claires Syndrome de Bannayan-Riley-Ruvalcaba Polypose adenomateuse familiale attenuée associée à NTHL1 Juvenile polyposis syndrome Cockayne syndrome Tyrosinemia type 1 Cronkhite-Canada syndrome Familial colorectal cancer Type X Bloom syndrome DDX41-related hematologic malignancy predisposition syndrome Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Birt-Hogg-Dubé syndrome WAGR syndrome Xeroderma pigmentosum-Cockayne syndrome complex Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Ataxia-telangiectasia-like disorder Familial adenomatous polyposis due to 5q22.2 microdeletion Inherited cancer-predisposing syndrome Noonan syndrome Polymerase proofreading-related adenomatous polyposis Denys-Drash syndrome Nijmegen breakage syndrome Wiskott-Aldrich syndrome Familial adenomatous polyposis X-linked lymphoproliferative disease Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome Multiple endocrine neoplasia type 1 Lynch syndrome Hereditary neuroendocrine tumor of small intestine Combined immunodeficiency due to CD27 deficiency Multiple endocrine neoplasia type 2 Xeroderma pigmentosum Cockayne syndrome type 1 Palmoplantar keratoderma-esophageal carcinoma syndrome Alagille syndrome due to 20p12 microdeletion Kostmann syndrome LIG4 syndrome Familial multinodular goiter MITF-related melanoma and renal cell carcinoma predisposition syndrome Lymphoproliferative syndrome Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency COFS syndrome Autoimmune lymphoproliferative syndrome Cowden syndrome Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to an imprinting defect of 11p15 Beckwith-Wiedemann syndrome due to NSD1 mutation Cockayne syndrome type 2 Beckwith-Wiedemann syndrome due to CDKN1C mutation Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Juvenile polyposis of infancy Beckwith-Wiedemann syndrome due to 11p15 microdeletion Xeroderma pigmentosum variant Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Cockayne syndrome type 3 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome Bazex syndrome Proteus syndrome Warsaw breakage syndrome Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Schöpf-Schulz-Passarge syndrome Serrated polyposis syndrome Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome APC-related attenuated familial adenomatous polyposis Alagille syndrome due to a NOTCH2 point mutation Costello syndrome Nijmegen breakage syndrome-like disorder Megalencephaly-capillary malformation-polymicrogyria syndrome Hereditary breast and/or ovarian cancer syndrome Multiple endocrine neoplasia type 2B Hereditary site-specific ovarian cancer syndrome MSH3-related attenuated familial adenomatous polyposis Melanoma and neural system tumor syndrome Dianzani autoimmune lymphoproliferative disease Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Turcot syndrome with polyposis Silver-Russell syndrome due to 11p15 microduplication Dyskeratosis congenita Alagille syndrome due to a JAG1 point mutation AXIN2-related attenuated familial adenomatous polyposis Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Noonan syndrome with multiple lentigines MUTYH-related attenuated familial adenomatous polyposis Generalized juvenile polyposis/juvenile polyposis coli Progeroid features-hepatocellular carcinoma predisposition syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Sotos syndrome Ataxia-telangiectasia Familial platelet disorder with associated myeloid malignancy Neurofibromatosis type 1 STAT3-related early-onset multisystem autoimmune disease Hereditary retinoblastoma Hereditary papillary renal cell carcinoma Hereditary breast cancer Full schwannomatosis