Search syndromes by name or gene

Searching for: F2

SyndromeSynonymGenes 
Ataxia Pancytopenia syndrome     Myelocerebellar disorder     TINF2     Show details
Congenital Dyskeratosis     Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita     DKC1, TERC, TERT, TINF2     Show details
Familial Paragangliomas     Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss     SDHA, SDHAF2/SDH5, SDHB, SDHC, SDHD     Show details
Focal Non-Epidermolytic Palmoplantar Keratoderma     Tylosis, Palmoplantar Ectodermal Dysplasia type III, Howel-Evans syndrome     RHBDF2     Show details
Neurofibromatosis, type 2     NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis     NF2     Show details
Paraganglioma and Somatostatinoma associated with Polycythemia          EPAS1 / HIF2A     Show details