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microcephaly and chorioretinopathy 3

Disease Summary
Associated Targets (1)


Mondo Description Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.
Uniprot Description A disorder characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus. Variable ocular anomalies include microphthalmia, retinal folding, retinal detachment, optic nerve hypoplasia, absence of retinal vessels, round areas of chorioretinal atrophy, and attenuated electroretinogram. Most patients have mild developmental delay and mild learning difficulties.
Mondo Term and Equivalent IDs
MONDO:0014592:  microcephaly and chorioretinopathy 3