Holoprosencephaly 4

Definition

A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.

Also known as holoprosencephaly 4, holoprosencephaly caused by mutation in TGIF1, holoprosencephaly type 4, HPE4, TGIF1 holoprosencephaly — per MONDO

Also identified as

• DOID 0110880 per MONDO
• MESH C564180 per MONDO
• NCIT C75475 per MONDO
• OMIM 142946 per MONDO
• UMLS C1840528 per MONDO