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 McCune-Albright syndrome Alagille syndrome Autoimmune lymphoproliferative syndrome with recurrent viral infections Muir-Torre syndrome Von Hippel-Lindau disease Isolated hemihyperplasia Full NF2-related schwannomatosis Rothmund-Thomson syndrome type 2 Beckwith-Wiedemann syndrome due to 11p15 microduplication Gorlin syndrome Frasier syndrome Werner syndrome Multiple endocrine neoplasia type 2A Hereditary mixed polyposis syndrome Proteus-like syndrome Hereditary clear cell renal cell carcinoma Bannayan-Riley-Ruvalcaba syndrome NTHL1-related attenuated familial adenomatous polyposis 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