Holoprosencephaly 2

Definition

A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.

Also known as holoprosencephaly 2, holoprosencephaly caused by mutation in SIX3, holoprosencephaly type 2, HPE2, SIX3 holoprosencephaly — per MONDO

Also identified as

• DOID 0110872 per MONDO
• MESH C563579 per MONDO
• NCIT C74995 per MONDO
• OMIM 157170 per MONDO
• UMLS C1834877 per MONDO