Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Disease ID: disease_node_16530
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| Dbxref | MIM:619720 |
|---|---|
| Subclassof | DOID_0051010 |
| Data Source | DOID |
| Doid Label | Bryant-Li-Bhoj neurodevelopmental syndrome 1 |
| Doid Description | A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predomitly 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. |
| Disease Node Id | disease_node_16530 |
| Doid Id | DOID_0051011 |
| Label | Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Bryant-Li-Bhoj Neurodevelopmental Syndrome(ID:disease_node_16528) (Disease)