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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.136 | IFRD1 |
Achchuthan Shanmugasundram gene: IFRD1 was added gene: IFRD1 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IFRD1 were set to 35997807; 36980886 Phenotypes for gene: IFRD1 were set to craniosynostosis, MONDO:0015469 Review for gene: IFRD1 was set to RED Added comment: A de novo variant was identified in a cohort of patients with lambdoid synostosis (p.Gly6fs*) (PMID:35997807). Sources: Literature |
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