Holoprosencephaly 1
Holoprosencephaly 1
Definition
The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.
Also known as holoprosencephaly 1, holoprosencephaly 1, isolated cases, holoprosencephaly type 1, HPE1 — per MONDO