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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.170 | ZCCHC11 |
Achchuthan Shanmugasundram gene: ZCCHC11 was added gene: ZCCHC11 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: ZCCHC11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZCCHC11 were set to 28808027; 36980886 Phenotypes for gene: ZCCHC11 were set to craniosynostosis, MONDO:0015469 Review for gene: ZCCHC11 was set to RED Added comment: An individual was described with metopic synostosis and a novel de novo frameshift variant in ZCCHC11 (p.Glu1275fs) (PMID:28808027). Sources: Literature |
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