holoprosencephaly type 4
holoprosencephaly type 4A type of holoprosencephaly (OMIM:236100), which is the most common structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres, often accompanied by a typical facial appearance.
Caused by defects of TGIF1, which encodes a member of the three-amino acid loop extension (TALE) superclass of highly conserved transcription regulators that may participate in transmitting nuclear signals.
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