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craniosynostosis 6

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene.
Uniprot Description A form of craniosynostosis, a primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.
Mondo Term and Equivalent IDs
MONDO:0014705:  craniosynostosis 6
UMLS:C4225269: