Urofacial syndrome 2

Definition

Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene.

Also known as LRIG2 Ochoa syndrome, Ochoa syndrome caused by mutation in LRIG2, urofacial syndrome 2, urofacial syndrome type 2 — per MONDO

Also identified as

• OMIM 615112 per MONDO
• UMLS C3554520 per MONDO