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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.113 | CHD3 |
Achchuthan Shanmugasundram gene: CHD3 was added gene: CHD3 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD3 were set to 30397230; 36980886 Phenotypes for gene: CHD3 were set to craniosynostosis, MONDO:0015469 Review for gene: CHD3 was set to RED Added comment: One of 35 individuals identified with Snijders Blok Campeau syndrome (neurodevelopmental disorder, macrocephaly and impaired speech and language) and with monoallelic variants in CHD3 gene (c.3482A>G; p.His1161Arg) presented with sagittal synostosis (PMID:30397230). In addition, one of 28 patients with sequence variants (c.52_53inv; p.Ser18Glu) in the DECIPHER database (https://www.deciphergenomics.org/) was reported with craniosynostosis as one of the phenotypes./ Sources: Literature |
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