FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term chromosome 16p11.2 deletion syndrome, 220-kb ID (Ontology) DOID:0060398 (Human Disease)
Definition A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene.
Also Known As "distal 16p11.2 microdeletion syndrome"
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 Alleles Genes
 chromosome 16p11.2 deletion syndrome, 220-kb       1      1
 model of | chromosome 16p11.2 deletion syndrome, 220-kb       1       --
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  chromosomal disease
   |__chromosomal deletion syndrome
       |__chromosome 16p11.2 deletion syndrome, 220-kb  2 rec.
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Synonyms
  • "distal 16p11.2 microdeletion syndrome" EXACT
Secondary IDs
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MIM:613444
ORDO:261222
UMLS_CUI:C3150701
UMLS_CUI:C4518824