16p11.2 proximal deletion syndrome is a rare genetic disorder (copy number variation) caused by a deletion in the region of chromosome 16 from 29,592,751 to 30,190,593 bp (GRCh37). The breakpoints are from: Dell'Edera 2018 PMID: 29609622.

Authors

Friederike Ehrhart , Kristina Hanspers , and Egon Willighagen

Cited In

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Organism

Homo sapiens

Communities

Rare Diseases

Annotations

Disease Ontology: genetic disease chromosome 16p11.2 deletion syndrome

Pathway Ontology: disease pathway

Participants

References

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