periventricular nodular heterotopia 2
An über rare autosomal recessive developmental disorder (OMIM:608097) characterised by the presence of periventricular nodules of cerebral grey matter, due to a failure of neurons to migrate normally from the lateral ventricular proliferative zone—where they are formed—to the cerebral cortex.
Clinical features Microcephaly , severe developmental delay and recurrent infections.
Molecular pathology Defects of ARFGEF2, which encodes a protein involved inactivating ARFs–ADP-ribosylation factors, cause periventricular nodular heterotopia 2.
Synonyms Heterotopia—periventricular—autosomal recessive, periventricular heterotopia with microcephaly—autosomal recessive