| Main clinical features
|
severe developmental delay and recurrent infections, on MRI periventricular heterotopia, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone to the cerebral cortex, abnormal MRI signals in subcortical white matter and elsewhere suggesting a delay in the normal myelination by glial cells, cerebral and hippocampal atrophy and hyperintensity in the putamen.
also West syndrome, microcephaly, periventricular heterotopia and thin corpus callosum, mental retardation (PMID: 23812912))
dystonic quadriplegia, marked developmental delay, obstructive cardiomyopathy, recurrent infections and feeding difficulties (PMID: 23755938)) |