OBO ID: DOID:0060430
Term Name: chromosome 16p11.2 duplication syndrome Search Ontology:
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 chromosome 16p11.2 duplication syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (2)
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