SE-ATLAS

Bohring-Opitz syndrome Ataxia-telangiectasia Multiple endocrine neoplasia Simpson-Golabi-Behmel syndrome Ataxia-pancytopenia syndrome WAGR syndrome Multiple endocrine neoplasia type 2 Proteus syndrome Bannayan-Riley-Ruvalcaba syndrome Beckwith-Wiedemann syndrome Diamond-Blackfan anemia Bloom syndrome Deafness-lymphedema-leukemia syndrome Cowden syndrome Denys-Drash syndrome Constitutional mismatch repair deficiency syndrome Trisomy 18 Cardiofaciocutaneous syndrome PTEN hamartoma tumor syndrome Frasier syndrome Weaver syndrome Gorlin syndrome Hirschsprung disease Legius syndrome Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome Hereditary pheochromocytoma-paraganglioma Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Ring chromosome 21 syndrome L-2-hydroxyglutaric aciduria Hereditary leiomyomatosis and renal cell cancer Li-Fraumeni syndrome Mulibrey nanism Neuroblastoma Neurofibromatosis type 1 Full NF2-related schwannomatosis Nijmegen breakage syndrome Noonan syndrome Multiple endocrine neoplasia type 1 Congenital central hypoventilation syndrome Hereditary retinoblastoma DICER1 tumor-predisposition syndrome Multiple endocrine neoplasia type 4 Rhabdoid tumor predisposition syndrome Full schwannomatosis Dyskeratosis congenita Rubinstein-Taybi syndrome Schinzel-Giedion syndrome Perlman syndrome Tuberous sclerosis complex Peutz-Jeghers syndrome Sotos syndrome Rothmund-Thomson syndrome MIRAGE syndrome Juvenile polyposis syndrome Tyrosinemia type 1 Von Hippel-Lindau disease Xeroderma pigmentosum Multiple endocrine neoplasia type 2A Proteus-like syndrome Multiple endocrine neoplasia type 2B APC-related attenuated familial adenomatous polyposis Costello syndrome Fanconi anemia