Holoprosencephaly 9

Definition

Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.

Also known as GLI2 holoprosencephaly, holoprosencephaly 9, holoprosencephaly caused by mutation in GLI2, holoprosencephaly type 9, holoprosencephaly with microphthalmia and first branchial arch anomalies, HPE9, pituitary anomalies with holoprosencephaly-like features — per MONDO

Also identified as

• DOID 0110873 per MONDO
• OMIM 610829 per MONDO
• UMLS C1835819 per MONDO