chromosome 16p11.2 duplication syndrome

Term ID

DOID:0060430

Synonyms

• proximal 16p11.2 microduplication syndrome
• proximal dup(16)(p11.2)
• proximal trisomy 16p11.2

Definition

A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language. https://ghr.nlm.nih.gov/condition/16p112-duplication

References

• ICD10CM:Q92.3
• OMIM:614671
• ORDO:370079

Ontology

Human Disease   ( DOID:0060430 )