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Human Disease
Bryant-Li-Bhoj neurodevelopmental syndrome 2
- Term ID
- DOID:0051012
- Synonyms
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- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0051012 )
- is a type of
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