Temple-Baraitser syndrome
Synonyms: Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome | TMBTS
A rare genetic multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability epilepsy hypoplasia/aplasia of the nails of the thumb and great toe 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 April 2024
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Temple-Baraitser syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Cure KCNH1 Foundation
Cure KCNH1 Foundation is a patient advocacy organization dedicated to raising awareness about KCNH1 genetic disorders and improving the lives of children and families by advancing research in the search for better treatment options and a cure.
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.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.