Synonyms: Del(14)(q12) | Monosomy 14q12
14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit with a normal neonatal period followed by a phase of regression at the age of 3-6 months.
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 June 2026
Newly diagnosed with
FOXG1 syndrome due to 14q12 microdeletion?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Access to Life NGO
Our mission is to improve the lives of people affected by genetic epilepsies by empowering patients and families, advancing access to diagnosis and treatment, supporting research, and advocating for equitable, patient-centered care in Ukraine in alignment with global rare disease standards.
FOXG1 Research Foundation
The FOXG1 Research Foundation (FRF) is the parent-led, global rare disease patient organization driving the research to find successful and precise treatments, and ultimately a cure, for every individual in the world with FOXG1 syndrome, while deeply focusing on patient advocacy, education, and family support.
Genetic Epilepsy Team Australia
Collaboration of research and care
MAST Genes Research Foundation
Connecting families and fueling research into microtubule-associated serine/threonine kinase (MAST) genetic mutations to improve the quality of life and develop therapies to support affected patients and families.
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
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.
The Children’s Rare Disorders Fund
The Children's Rare Disorders Fund is dedicated to curing rare genetic disorders generally identified in childhood, beginning with FOXG1 Syndrome. Founded by parents of a toddler affected with FOXG1, The CRD Fund focuses research and development projects, aiming to fund research for as many rare disorders as possible, in order to cure as many children as possible.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.