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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.112 | CDK8 |
Achchuthan Shanmugasundram gene: CDK8 was added gene: CDK8 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDK8 were set to 30905399; 36980886 Phenotypes for gene: CDK8 were set to craniosynostosis, MONDO:0015469 Review for gene: CDK8 was set to RED Added comment: Metopic synostosis was described in one individual out of 12 reported with variants in CDK8 from PMID:30905399. This individual harboured a de novo c.88G>A (p.Gly30Ser) variant. Sources: Literature |
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