chromosome 16p12.1 deletion syndrome

Term ID

DOID:0060399

Synonyms

Definition

A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects. https://www.ncbi.nlm.nih.gov/pubmed/20154674

References

• OMIM:136570

Ontology

Human Disease   ( DOID:0060399 )