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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.125 | FOXP2 |
Achchuthan Shanmugasundram gene: FOXP2 was added gene: FOXP2 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXP2 were set to 35080095; 36980886 Phenotypes for gene: FOXP2 were set to craniosynostosis, MONDO:0015469 Review for gene: FOXP2 was set to RED Added comment: A familial variant in FOXP2 (c.484del; p.Gln162fs) was identified in individuals with developmental delay, hypermetropia, orofacial dyspraxia and sagittal craniosynostosis. The variant is absent from gnomAD (PMID:35080095) Sources: Literature |
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