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microcephaly and chorioretinopathy 1

Disease Summary
Associated Targets (2)


Mondo Description 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.
Uniprot Description A syndrome characterized by microcephaly, cognitive impairment, underdeveloped retina and choroid, and epilepsy in some patients. The more anterior parts of the retina, near the periphery and pars plana, have a grayish hue and diminutive vasculature similar to retinopathy of prematurity. Visual impairment becomes evident during the first year of life.
Mondo Term and Equivalent IDs
MONDO:0009624:  microcephaly and chorioretinopathy 1