Term Name:	Bryant-Li-Bhoj neurodevelopmental syndrome 1
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 and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42.
Ontology:	Human Disease [DOID:0051011]   ( DOID:0051011 )