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ENPontocerebellar Hypoplasia, Type 13 (PCH13)
Alias:
Pontocerebellar Hypoplasia Type 13
Pch13
Hypoplasia, Pontocerebellar, Type 13
Pontocerebellar Hypoplasia 13
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Pontocerebellar Hypoplasia, Type 13, also known as pontocerebellar hypoplasia type 13, is related to microphthalmia, syndromic 2. An important gene associated with Pontocerebellar Hypoplasia, Type 13 is VPS51 (VPS51 Subunit Of GARP Complex), and among its related pathways/superpathways are SUMOylation of transcription cofactors and RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known. Affiliated tissues include brain and pons, and related phenotypes are failure to thrive and constipation
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