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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.124 | FOXP1 |
Achchuthan Shanmugasundram gene: FOXP1 was added gene: FOXP1 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXP1 were set to 29330474; 36980886 Phenotypes for gene: FOXP1 were set to craniosynostosis, MONDO:0015469 Review for gene: FOXP1 was set to RED Added comment: Whole exome sequencing identified a de novo splicing variant in FOXP1 (c.1428+1 G>A; p.Ala450GLyfs*13) in a patient with syndromic intellectual disability and trigonocephaly (PMID:29330474). Sources: Literature |
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