Microcephaly and chorioretinopathy 1
Microcephaly and chorioretinopathy 1
Definition
An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.
Also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome, microcephaly and chorioretinopathy 1, microcephaly and chorioretinopathy caused by mutation in TUBGCP6, microcephaly and chorioretinopathy type 1, microcephaly and chorioretinopathy, autosomal recessive, type 1, Pseudotoxoplasmosis syndrome, TUBGCP6 microcephaly and chorioretinopathy — per MONDO