16p11.2p12.2 microdeletion syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

16p11.2p12.2 microdeletion syndrome

Synonyms: Del(16)(p11.2p12.2) | Monosomy 16p11.2p12.2

16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.

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

Newly diagnosed with
16p11.2p12.2 microdeletion syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Malaysian Rare Disorders Society

1. Provide support to individuals and families affected with Rare Disorders. 2. Develop strategies and programs to raise public and professional 3. Ensure Human Rights of access to healthcare education, job opportunities are upheld. 4. Participate in the formulation and implementation national policies in Malaysia related to person with rare disorders and rare disorders

Clinical Trials

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