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last update : 09-04-2014
Symbol ARPHM
Location 20q13.13
Name periventricular heterotopia with microcephaly
Corresponding gene ARFGEF2
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))
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name ADP-ribosylation factor guanine nucleotide-exchange factor 2