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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.121 | EIF5A |
Achchuthan Shanmugasundram gene: EIF5A was added gene: EIF5A was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EIF5A were set to 36118902; 36980886 Phenotypes for gene: EIF5A were set to craniosynostosis, MONDO:0015469 Review for gene: EIF5A was set to RED Added comment: An intronic variant was identified in EIF5A (c.271-1G>C) within the Chinese cohort in a patient with metopic synostosis (PMID:36118902). Sources: Literature |
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