Microcephaly and chorioretinopathy 3

Definition

Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.

Also known as microcephaly and chorioretinopathy caused by mutation in TUBGCP4, microcephaly and chorioretinopathy type 3, microcephaly and chorioretinopathy, autosomal recessive, type 3, TUBGCP4 microcephaly and chorioretinopathy — per MONDO

Also identified as

• DOID 0080107 per MONDO
• OMIM 616335 per MONDO
• UMLS C4225362 per MONDO