Pontocerebellar Hypoplasia Type 7

About the Disease
Pontocerebellar Hypoplasia, Type 7, also known as pontocerebellar hypoplasia type 7, is related to pontocerebellar hypoplasia and alacrima, achalasia, and mental retardation syndrome, and has symptoms including apnea and myoclonus. An important gene associated with Pontocerebellar Hypoplasia, Type 7 is TOE1 (Target Of EGR1, Exonuclease). Affiliated tissues include brain, pons and cerebellum, and related phenotypes are intellectual disability and high palate

Common Targets
TOE1

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