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 March 2024

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Inverted duplicated chromosome 15 syndrome?

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Advocacy Organizations

FamilieSCN2A Foundation

We are an organization created by parents of children diagnosed with rare forms of Epilepsy and Autism as a result of a change in the SCN2A gene. Our vision is to find effective treatments and a cure for SCN2A related disorders. Our mission is to improve the lives of those affected by SCN2A related disorders through research, public awareness, family support and patient advocacy.

Helping Swans Co.

Promoting disability awareness and inclusion through education and support services. They highlight rare and undiagnosed diseases and provide initiatives in schools, hospitals, and other organizations to create a more inclusive world. The organization was founded by a disabled Latina mother of a rare child with autism, with a focus on diversity and underrepresented communities.

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.

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.

Clinical Trials

For a list of clinical trials in this disease area, please click here.