Visualize Submit Comment

Metadata
ID	DOID:0060415
Name	chromosome 2p16.1-p15 deletion 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/
Xrefs	GARD:13391 ICD10CM:Q93.5 MESH:C567289 OMIM:612513 ORDO:261349
Subsets	DO_rare_slim
Synonyms	2p15-p16.1 microdeletion syndrome [RELATED] 2p15p16.1 microdeletion syndrome [EXACT]
Parent Relationships	is_a chromosomal deletion syndrome