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Search syndromes by name or gene
Searching for: F2
Syndrome | Synonym | Genes | |
Ataxia Pancytopenia syndrome
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Myelocerebellar disorder
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TINF2
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Congenital Dyskeratosis
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Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita
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DKC1, TERC, TERT, TINF2
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Familial Paragangliomas
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Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss
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SDHA, SDHAF2/SDH5, SDHB, SDHC, SDHD
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Focal Non-Epidermolytic Palmoplantar Keratoderma
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Tylosis, Palmoplantar Ectodermal Dysplasia type III, Howel-Evans syndrome
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RHBDF2
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Neurofibromatosis, type 2
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NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis
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NF2
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Paraganglioma and Somatostatinoma associated with Polycythemia
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EPAS1 / HIF2A
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