holoprosencephaly 2

GENETICS, NEUROLOGY

Definition A form (OMIM:157170) of holoprosencephaly*

*A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. 

Molecular pathology Defects of SIX3, which encodes a member of the sine oculis homeobox–SIX transcription factor family and plays a role in eye development, cause holoprosencephaly 2.

References http://www.uniprot.org/uniprot/O95343

http://www.omim.org/entry/157170