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Pontocerebellar Hypoplasia Type 1D
EXOSC9-Related Pontocerebellar Hypoplasia

Presentation

Neurologic

  • Neonatal Hypotonia

    Brachycephaly Neonatal hypotonia Poor head control Progressive microcephaly Abnormality of the nervous system Cerebellar atrophy Cerebellar hypoplasia Cerebral atrophy Global developmental delay Hyperreflexia Hypoplasia of the brainstem Hypoplasia of [ncbi.nlm.nih.gov]

  • Global Developmental Delay

    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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