Microcephaly and chorioretinopathy 2

Definition

Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene.

Also known as microcephaly and chorioretinopathy caused by mutation in PLK4, microcephaly and chorioretinopathy type 2, microcephaly and chorioretinopathy, autosomal recessive, type 2, PLK4 microcephaly and chorioretinopathy — per MONDO

Also identified as

• DOID 0080106 per MONDO
• OMIM 616171 per MONDO
• UMLS C4015388 per MONDO