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Microcephaly and chorioretinopathy 3

MONDO:0014592

Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.

Also known as: TUBGCP4 microcephaly and chorioretinopathy, microcephaly and chorioretinopathy caused by mutation in TUBGCP4, microcephaly and chorioretinopathy type 3, microcephaly and chorioretinopathy, autosomal recessive, type 3, MCCRP3, microcephaly and chorioretinopathy, autosomal recessive, 3

3 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Inflammatory disease (332) Nervous system disorder (231) Hereditary disease (176) Neurodevelopmental disorder (147) Eye disorder (102) Uveitis (33) Human disease (14) Hereditary neurological disease (6) Microcephaly (4)
Trials to join now! 1 Not yet recruiting 1 Not yet finished but already full! 1
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  • New eye imaging study aims to map retinal disease progression

    Knowledge-focused Not yet recruiting

    This observational study will use advanced imaging techniques to measure changes in the retina and choroid (the layer beneath the retina) in people with eye diseases and healthy volunteers. Over 5 years, researchers will track thickness and blood vessel density to better understa…

    Sponsor: Fondazione G.B. Bietti, IRCCS • Aim: Knowledge-focused

    Last updated Jun 27, 2026 13:00 UTC

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