| Metadata | |
|---|---|
| ID | DOID:0051012 |
| PURL | http://purl.obolibrary.org/obo/DOID_0051012 Copy |
| Name | Bryant-Li-Bhoj neurodevelopmental syndrome 2 |
| 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. https://pubmed.ncbi.nlm.nih.gov/38678163/, https://www.ncbi.nlm.nih.gov/books/NBK595206/ |
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