Microcephaly and chorioretinopathy 1

MONDO:0009624

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

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