Search Ontology:
Human Disease
chromosome 16p12.2-p11.2 deletion syndrome
- Term ID
- DOID:0060400
- Synonyms
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- 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
- MIM:613604
- ORDO:261211
- Ontology
- Human Disease ( DOID:0060400 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models