tubulin gamma complex associated protein 6
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
- Microcephaly with chorioretinopathy, autosomal recessive
Microcephaly and chorioretinopathy, autosomal recessive, 1 (MCCRP1): 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. [MIM:251270]