Microcephaly and chorioretinopathy 1

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: Pseudotoxoplasmosis syndrome, TUBGCP6 microcephaly and chorioretinopathy, 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, MCCRP1

28 clinical trials for this condition and its sub-types, 0 tagged with Microcephaly and chorioretinopathy 1 itself.