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Rare syndromic craniosynostosis or isolated multisuture synostosis v4.160 | SMARCD2 |
Achchuthan Shanmugasundram gene: SMARCD2 was added gene: SMARCD2 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: SMARCD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCD2 were set to 28808027; 36980886 Phenotypes for gene: SMARCD2 were set to craniosynostosis, MONDO:0015469 Review for gene: SMARCD2 was set to RED Added comment: An individual was described with metopic synostosis and a de novo variant in SMARCD2 (p.Arg73Ter) (PMID:28808027). Sources: Literature |