FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term Bryant-Li-Bhoj neurodevelopmental syndrome 1 ID (Ontology) DOID:0051011 (Human Disease)
Definition A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42.
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 Bryant-Li-Bhoj neurodevelopmental syndrome 1       1
 for disease ribbon | Bryant-Li-Bhoj neurodevelopmental syndrome 1       1
 model of | Bryant-Li-Bhoj neurodevelopmental syndrome 1       1
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  autosomal dominant intellectual developmental disorder
   |__Bryant-Li-Bhoj neurodevelopmental syndrome
       |__Bryant-Li-Bhoj neurodevelopmental syndrome 1  1 rec.
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MIM:619720