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Pontocerebellar Hypoplasia Type 1D
EXOSC9-Related Pontocerebellar Hypoplasia

Presentation

Neurologic

  • Seizure

    Clinical features vary, but usually include severe developmental delay, dysmorphic features, seizures, and early death (summary by Durmaz et al., 2009). [ncbi.nlm.nih.gov]

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