Microphthalmia, syndromic 11

Definition

Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene.

Also known as microphthalmia, syndromic 11, microphthalmia, syndromic type 11, syndromic microphthalmia caused by mutation in VAX1, VAX1 syndromic microphthalmia — per MONDO

Also identified as

• DOID 0111804 per MONDO
• OMIM 614402 per MONDO
• UMLS C3553077 per MONDO