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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 pill could tame debilitating eye inflammation, major trial underway

    Disease control Ongoing

    This study tests an oral medication called brepocitinib in adults with active uveitis, a condition causing inflammation inside the eye. The goal is to see if the drug can prevent the disease from worsening and help maintain vision. About 371 participants will receive either the d…

    Phase: PHASE3 • Sponsor: Priovant Therapeutics, Inc. • Aim: Disease control

    Last updated Jun 27, 2026 08:10 UTC

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