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]