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| Intellectual disability v9.346 | MYCBP2 |
Ludmila Volozonoka gene: MYCBP2 was added gene: MYCBP2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYCBP2 were set to 41200582; 36200388; 41543631 Review for gene: MYCBP2 was set to GREEN Added comment: PMID: 36200388 reports eight de novo MYCBP2 variants (two loss-of-function and six missense) in patients presenting with dysmorphism, global developmental delay, varying degrees of intellectual disability, language delay, and ASD. Less common features include corpus callosum dysgenesis and epilepsy. PMID: 41200582 describes a loss-of-function MYCBP2 variant identified in a mother and her two sons, all exhibiting similar clinical features as in PMID: 36200388. PMID: 41543631 demonstrates another loss-of-function variant in a proband with NDD, inherited from a mother with mild features (notably subtle executive dysfunction). The gene is highly constrained of LOF variants in a general population (pLI = 1). Sources: Literature |
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