Term Name: | Bryant-Li-Bhoj neurodevelopmental syndrome 2 |
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Synonyms: | |
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 nd that has_material_basis_in heterozygous mutation in the H3F3B gene on chromosome 17q25. |
Ontology: | Human Disease [DOID:0051012] ( DOID:0051012 ) |