Bryant-Li-Bhoj neurodevelopmental syndrome 2 Disease Ontology Browser

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Bryant-Li-Bhoj neurodevelopmental syndrome 2 (DOID:0051012)
Alliance: disease page
Alt IDs: OMIM:619721
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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