periventricular nodular heterotopia 2

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periventricular nodular heterotopia 22016-11-27T16:30:11+00:00

periventricular nodular heterotopia 2 

NEUROLOGY, PAEDIATRICS

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 

References http://www.uniprot.org/uniprot/Q9Y6D5

http://www.omim.org/entry/608097

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