Term Name: Bryant-Li-Bhoj neurodevelopmental syndrome 2
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 )

Relationships
is a type of: Bryant-Li-Bhoj neurodevelopmental syndrome