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Disease Ontology Browser
chromosome 2p16.1-p15 deletion syndrome (DOID:0060415)
Alliance: disease page
Synonyms: 2p15-p16.1 microdeletion syndrome; 2p15p16.1 microdeletion syndrome
Alt IDs: OMIM:612513, ICD10CM:Q93.5, MESH:C567289, ORDO:261349
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory