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| Term | chromosome 2p16.1-p15 deletion syndrome | ID (Ontology) | DOID:0060415 (Human Disease) |
| 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. | ||
| Also Known As | "2p15p16.1 microdeletion syndrome" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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chromosomal disease |__chromosomal deletion syndrome |__chromosome 2p16.1-p15 deletion syndrome |
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| Is a | chromosomal deletion syndrome | ||
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GARD:13391 ICD10CM:Q93.5 MESH:C567289 MIM:612513 ORDO:261349 |
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