Interferon regulatory factor 2 binding protein like is a protein that in humans is encoded by the IRF2BPL gene. Mutations are associated with neurological problems. More specifically, mutations of the gene cause the NEDAMSS syndrome, whose abbreviation stands for NEurodevelopmental Disorder with regression, Abnormal Movements, loss of Speech, and Seizures, first described in 2018.
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Interferon regulatory factor 2 binding protein like is a protein that in humans is encoded by the IRF2BPL gene. Mutations are associated with neurological problems. More specifically, mutations of the gene cause the NEDAMSS syndrome, whose abbreviation stands for NEurodevelopmental Disorder with regression, Abnormal Movements, loss of Speech, and Seizures, first described in 2018.
Research into IRF2BPL-Related Disorder (NEDAMSS) is ongoing, with multiple academic and clinical groups investigating the gene’s role in neurodevelopment and potential therapeutic approaches. Nonprofit organizations, such as Tough Genes, are working to support these efforts to translate research into a cure.
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).