Pontocerebellar Hypoplasia, Type 7 (PCH7)

Pontocerebellar Hypoplasia, Type 7, also known as pontocerebellar hypoplasia type 7, is related to pontocerebellar hypoplasia and microcephaly, 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 and pons, and related phenotypes are intellectual disability and high palate