chromosome 2p16.1-p15 deletion syndrome

Term ID

DOID:0060415

Synonyms

• 2p15-p16.1 microdeletion syndrome
• 2p15p16.1 microdeletion syndrome

Definition

A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. https://pubmed.ncbi.nlm.nih.gov/26019277/

References

• GARD:13391
• ICD10CM:Q93.5
• MESH:C567289
• OMIM:612513
• ORDO:261349

Ontology

Human Disease   ( DOID:0060415 )