SE-ATLAS

Multiple endocrine neoplasia Multiple endocrine neoplasia type 4 PCNA-related progressive neurodegenerative photosensitivity syndrome Cronkhite-Canada syndrome WAGR syndrome Werner syndrome Wiskott-Aldrich syndrome Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial multinodular goiter Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 MITF-related melanoma and renal cell carcinoma predisposition syndrome Hereditary papillary renal cell carcinoma Warsaw breakage syndrome Rubinstein-Taybi syndrome due to CREBBP mutations APC-related attenuated familial adenomatous polyposis Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Beckwith-Wiedemann syndrome due to NSD1 mutation Mosaic variegated aneuploidy syndrome Familial medullary thyroid carcinoma Blue rubber bleb nevus Combined immunodeficiency due to OX40 deficiency Inherited digestive cancer-predisposing syndrome Aicardi syndrome Alagille syndrome Autoimmune lymphoproliferative syndrome with recurrent viral infections Dianzani autoimmune lymphoproliferative disease Isolated hemihyperplasia Fanconi anemia Hereditary mixed polyposis syndrome Ataxia-telangiectasia Serrated polyposis syndrome Bannayan-Riley-Ruvalcaba syndrome Familial colorectal cancer Type X Beckwith-Wiedemann syndrome Birt-Hogg-Dubé syndrome Nijmegen breakage syndrome-like disorder Polymalformative genetic syndrome with increased risk of developing cancer Diamond-Blackfan anemia Bloom syndrome Xeroderma pigmentosum-Cockayne syndrome complex Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Familial papillary thyroid carcinoma with renal papillary neoplasia Familial atypical multiple mole melanoma syndrome Lynch syndrome Hereditary breast and/or ovarian cancer syndrome Palmoplantar keratoderma-esophageal carcinoma syndrome Autoimmune lymphoproliferative syndrome NTHL1-related attenuated familial adenomatous polyposis Cockayne syndrome DDX41-related hematologic malignancy predisposition syndrome Cowden syndrome Cockayne syndrome type 1 Cockayne syndrome type 2 Cockayne syndrome type 3 Denys-Drash syndrome Bazex syndrome Juvenile polyposis of infancy Xeroderma pigmentosum variant Generalized juvenile polyposis/juvenile polyposis coli Silver-Russell syndrome due to a point mutation MSH3-related attenuated familial adenomatous polyposis Ollier disease Constitutional mismatch repair deficiency syndrome Melanoma and neural system tumor syndrome Epidermodysplasia verruciformis Attenuated familial adenomatous polyposis PTEN hamartoma tumor syndrome Frasier syndrome Simpson-Golabi-Behmel syndrome Gorlin syndrome Polymerase proofreading-related adenomatous polyposis Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome X-linked lymphoproliferative disease Kostmann syndrome COFS syndrome Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Ataxia-telangiectasia-like disorder Familial adenomatous polyposis due to 5q22.2 microdeletion Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome Alagille syndrome due to 20p12 microdeletion LIG4 syndrome Turcot syndrome with polyposis 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 Alagille syndrome due to a NOTCH2 point mutation Hereditary nonpolyposis colon cancer Hereditary leiomyomatosis and renal cell cancer Li-Fraumeni syndrome Familial ovarian cancer Hereditary site-specific ovarian cancer syndrome Common variable immunodeficiency Oligodontia-cancer predisposition syndrome Hyperparathyroidism-jaw tumor syndrome N syndrome McCune-Albright syndrome Intestinal polyposis syndrome Muir-Torre syndrome Hereditary clear cell renal cell carcinoma Familial platelet disorder with associated myeloid malignancy Full NF2-related schwannomatosis Nijmegen breakage syndrome Noonan syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Hereditary neuroendocrine tumor of small intestine Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2 Rétinoblastome héréditaire Syndrome de Beckwith-Wiedemann dû à un défaut d'empreinte de la région 11p15 Syndrome de Beckwith-Wiedemann dû à une mutation de CDKN1C Syndrome de Beckwith-Wiedemann dû à une microdélétion 11p15 Syndrome de Beckwith-Wiedemann dû à une translocation/inversion 11p15 Polypose adénomateuse familiale Schwannomatose germinale Syndrome de Silver-Russell dû à une microduplication 7p11.2p13 Syndrome de Silver-Russell dû à un défaut d'empreinte de la région 11p15 Syndrome de Silver-Russell dû à une disomie uniparentale maternelle du chromosome 11 Syndrome de Protée Syndrome de Silver-Russell dû à une microduplication 11p15 Dyskératose congénitale Syndrome d'apparence progéroïde avec prédisposition aux carcinomes hépatocellulaires Syndrome de Schöpf-Schulz-Passarge Prédisposition au développement de tumeurs liée à BAP1 Syndrome de Rubinstein-Taybi Syndrome de Saethre-Chotzen Syndrome de Schinzel-Giedion Syndrome de Perlman Sclérose tubéreuse de Bourneville Syndrome de Shwachman-Diamond Syndrome de Silver-Russell Syndrome de Maffucci Syndrome de Gardner Syndrome de Peutz-Jeghers Syndrome de Sotos Syndrome de Beckwith-Wiedemann dû à une microduplication 11p15 Maladie leucoproliférative auto-immune associée à RAS Syndrome de Rothmund-Thomson type 2 Syndrome héréditaire de prédisposition aux cancers rénaux Syndrome de polypose juvénile Tyrosinémie type 1 Maladie de von Hippel-Lindau Syndrome familial avec prédisposition aux cancers Maladie auto-immune multisystémique précoce associée à STAT3 Xeroderma pigmentosum Syndrome Proteus-like Déficit immunitaire combiné par déficit en CD27 Syndrome lymphoprolifératif Syndrome lymphoprolifératif auto-immun dû à une haploinsuffisance de CTLA-4 Syndrome de Beckwith-Wiedemann dû à une disomie uniparentale d'origine paternelle du chromosome 11 Syndrome familial avec prédisposition aux cancers par mutations bialléliques de BRCA2 Polypose adénomateuse familiale atténuée liée à MUTYH Syndrome de retard de développement-kystes pulmonaires-croissance excessive-tumeur de Wilms Syndrome de Costello