Search Ontology:
Human Disease

chromosome 16p12.2-p11.2 deletion syndrome

Term ID
DOID:0060400
Synonyms
  • 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
Ontology
Human Disease   ( DOID:0060400 )
Relationships
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Genes Involved
Zebrafish Models