chromosome 16p12.2-p11.2 deletion syndrome

Term ID

DOID:0060400

Synonyms

• 16p11.2-p12.2 microdeletion syndrome
• 16p11.2p12.2 microdeletion syndrome

Definition

A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment. https://pubmed.ncbi.nlm.nih.gov/19449418

References

• ICD10CM:Q93.5
• OMIM:613604
• ORDO:261211

Ontology

Human Disease   ( DOID:0060400 )