holoprosencephaly type 5

holoprosencephaly type 5

A structural anomaly (OMIM:609637) in which the developing forebrain fails to correctly separate into right and left hemispheres. In contrast to other types of holoprosencephaly, infants with type-5 mutations have relatively normal faces.
 
Molecular pathology
Defects in ZIC2, which encodes a zinc finger protein involved in CNS and retinal development, cause holoprosencephaly type 5.
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