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A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.

Clinical genetics - 1 Sept 2020

Hamdan Nadine, Mehawej Cybel, Sebaaly Ghada, Jalkh Nadine, Corbani Sandra, Abou-Ghoch Joelle, De Backer O, Chouery Eliane

Abstract excerpt

Intellectual disability (ID) is a neurodevelopmental disorder characterized by limitations in both intellectual and behavioral functioning. It can occur in non-syndromic and syndromic forms involving multiple organs. While the majority of genetic variants linked to ID are de novo, inherited variants are also detected in some forms. Here, we report a consanguineous Lebanese family presenting with an autosomal...

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PMID: 32578875
DOI: 10.1111/cge.13799

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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