Bryant-Li-Bhoj neurodevelopmental syndrome 1

Term ID

DOID:0051011

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. (2)

References

• MIM:619720

Ontology

Human Disease   ( DOID:0051011 )