Details of Disease
General Information of Disease (ID: DIS7O59E)
Disease Name | Pontocerebellar hypoplasia type 2B | |||||
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Synonyms | pontocerebellar hypoplasia, type 2B; PCH2B; non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2; pontocerebellar hypoplasia type 2B; TSEN2 non-syndromic pontocerebellar hypoplasia | |||||
Definition | Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene. | |||||
Disease Hierarchy | ||||||
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Molecular Interaction Atlas (MIA) of This Disease
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This Disease Is Related to 1 DOT Molecule(s)
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