Homozygous mutation in CLP1 c.419G > A(p.R140H) in PCH type 10, TOE1 c.572A > G(p.N191S) in PCH type 7, and TBC1D23 ( c.1263 + 1G > A) in PCH type 11 were respectively detected. Here, CLP1 is linked to pontocerebellar hypoplasia.