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Date: Tue Jan 28 2025
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chromosome 16p11.2 duplication syndrome
DOID:0060430
Summary
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Disease
chromosome 16p11.2 duplication syndrome
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.
[1]
Synonyms
proximal 16p11.2 microduplication syndrome
proximal dup(16)(p11.2)
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Cross References
ICD10CM:Q92.3
MIM:614671
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Parent Terms
chromosomal duplication syndrome
Child Terms
None
Sources of Associations
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ZFIN
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