Familial thyroid dyshormonogenesis
Synonyms: Thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term) a permanent thyroid hormone deficiency that is present from birth which results from inborn errors of thyroid hormone synthesis.
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 April 2024
Newly diagnosed with
Familial thyroid dyshormonogenesis?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Clinical Trials
For a list of clinical trials in this disease area, please click here.