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ENPontocerebellar Hypoplasia, Type 2c (PCH2C)
Alias:
Pontocerebellar Hypoplasia Type 2c
Pch2c
Hypoplasia, Pontocerebellar, Type 2c
Pontocerebellar Hypoplasia 2c
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Pontocerebellar Hypoplasia, Type 2c, is also known as pontocerebellar hypoplasia type 2c. An important gene associated with Pontocerebellar Hypoplasia, Type 2c is TSEN34 (TRNA Splicing Endonuclease Subunit 34). Affiliated tissues include spinal cord and cerebellum, and related phenotypes are chorea and microcephaly
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