You are using an outdated browser. Please upgrade your browser to improve your experience.

TCF12-related craniosynostosis

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.
Uniprot Description 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:0014128:  TCF12-related craniosynostosis
UMLS:C3715051: