FOXG1 syndrome due to 14q12 microdeletion

Get in touch with RARE Concierge.

Contact RARE Concierge

FOXG1 syndrome due to 14q12 microdeletion

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 September 2023.

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.

Get Concierge Help

Advocacy Organizations

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.

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

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