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Pontocerebellar hypoplasia type 4
- ... NORD) ClinicalTrials.gov PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4 PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A PONTOCEREBELLAR HYPOPLASIA, ...
- ... Testing Registry: Syndromic X-linked intellectual disability Najm type ... Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK ...