Inverted duplicated chromosome 15 syndrome

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Inverted duplicated chromosome 15 syndrome

Synonyms: Duplication/inversion 15q11 | Inv dup (15) syndrome | Isodicentric chromosome 15 syndrome | Non-distal tetrasomy 15q | Non-telomeric tetrasomy 15q | idic (15) syndrome

A rare complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia global developmental delay and intellectual deficit autistic behavior and seizures.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Inverted duplicated chromosome 15 syndrome?

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Advocacy Organizations

TRND Network

The TRND Network is dedicated to supporting patients and their loved ones by providing advocacy and support, advancing research, and creating collaboration between researchers and patients.

TRND Network

The TRND Network is dedicated to supporting patients and their loved ones by providing advocacy and support, advancing research, and creating collaboration between researchers and patients.

SCN2A Foundation

The SCN2A Foundation is a global initiative dedicated towards accelerating research and treatment for SCN2A. We plan to achieve this by building collaborative networks among the global research community, organizing resources, and strategically investing in highly focused research directed towards therapeutic development.

Clinical Trials

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