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]

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]