Search Ontology:
Human Disease

chromosome 16p11.2 duplication syndrome

Term ID
DOID:0060430
Synonyms
  • proximal 16p11.2 microduplication syndrome
  • proximal dup(16)(p11.2)
  • proximal trisomy 16p11.2
Definition
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language. https://ghr.nlm.nih.gov/condition/16p112-duplication
References
Ontology
Human Disease   ( DOID:0060430 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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