SE-ATLAS

Cartilage-hair hypoplasia Treacher-Collins syndrome Bowen-Conradi syndrome Multiple endocrine neoplasia Multiple endocrine neoplasia type 4 Hereditary nonpolyposis colon cancer BAP1-related tumor predisposition syndrome Hereditary leiomyomatosis and renal cell cancer Saethre-Chotzen syndrome Schinzel-Giedion syndrome Perlman syndrome Common variable immunodeficiency Shwachman-Diamond syndrome Silver-Russell syndrome Peutz-Jeghers syndrome PTEN hamartoma tumor syndrome Familial papillary thyroid carcinoma with renal papillary neoplasia Fanconi anemia Li-Fraumeni syndrome Familial atypical multiple mole melanoma syndrome Silver-Russell syndrome due to a point mutation Familial ovarian cancer RAS-associated autoimmune leukoproliferative disease Rubinstein-Taybi syndrome Oligodontia-cancer predisposition syndrome Mosaic variegated aneuploidy syndrome Hyperparathyroidism-jaw tumor syndrome Inherited renal cancer-predisposing syndrome Familial medullary thyroid carcinoma PCNA-related progressive neurodegenerative photosensitivity syndrome Blue rubber bleb nevus Beckwith-Wiedemann syndrome Ollier disease Simpson-Golabi-Behmel syndrome Tuberous sclerosis complex Constitutional mismatch repair deficiency syndrome Inherited digestive cancer-predisposing syndrome Combined immunodeficiency due to OX40 deficiency Attenuated familial adenomatous polyposis Maffucci syndrome Epidermodysplasia verruciformis Polymalformative genetic syndrome with increased risk of developing cancer Gardner syndrome Diamond-Blackfan anemia N syndrome Intestinal polyposis syndrome 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 Syndrome de polypose juvénile Syndrome de Cockayne Tyrosinémie type 1 Syndrome de Cronkhite-Canada Cancer colorectal familial type X Syndrome de Bloom Syndrome de prédisposition aux cancers hématologiques associé à DDX41 Syndrome Noonan-like avec leucémie myélomonocytaire juvénile Syndrome de Birt-Hogg-Dubé Syndrome WAGR Complexe Xeroderma pigmentosum-syndrome de Cockayne Syndrome de Beckwith-Wiedemann dû à un défaut d'empreinte de la région 11p15 Ataxie-télangiectasie-like Polypose adénomateuse familiale due à une microdélétion 5q22.2 Syndrome familial avec prédisposition aux cancers Syndrome de Noonan Polypose adénomateuse associée aux ADN polymérases Syndrome de Denys-Drash Syndrome de Nijmegen Syndrome de Wiskott-Aldrich Polypose adénomateuse familiale Maladie lymphoproliférative liée à l'X Syndrome d'hypertrophie segmentaire-lipomatose-malformation artérioveineuse-naevus épidermique Néoplasie endocrinienne multiple type 1 Syndrome de Lynch Tumeur neuroendocrine de l'intestin grêle héréditaire 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 Schwannomatose germinale