lissencephaly 4

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lissencephaly 42016-11-26T21:32:00+00:00

lissencephaly 4

NEUROLOGY  

A neurodevelopmental disorder (OMIM:614019) characterised by lissencephaly, severe brain atrophy, extreme microcephaly (head circumference of > 10 standard deviations below the mean), and profound mental retardation

Molecular pathology Defects in NDE1, which encodes a protein essential for embryonic development of the cerebral cortex, cause lissencephaly 4.  

Synonym Lissencephaly 4—with microcephaly 

References http://www.uniprot.org/uniprot/Q9NXR1

http://www.omim.org/entry/614019

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