Severe global development delay, absent speech, profound intellectual disability, early onset of seizures, status epilepticus, impaired vision, nystagmus, hypotonia, poor head control and feeding difficulties are clinical features of DEE38. Some affected individuals have also acquired microcephaly, dilated cardiomyopathy, scoliosis, osteopenia, bone defects, abnormal movements such as ataxia, dystonia, spasticity, brain imaging abnormality such as cortical or cerebellar atrophy.
ARV1