TBCK-related intellectual disability syndrome
TBCK-related intellectual disability syndrome is a rare genetic syndromic intellectual disability characterized by usually profound intellectual disability with absent speech severe infantile hypotonia with decreased or absent reflexes markedly slow motor development (with no progress beyond the ability to sit independently) early-onset epilepsy strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume ex vacuo ventriculomegaly dysgenesis of corpus callosum white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties respiratory insufficiency osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly bitemporal narrowing high-arched eyebrows high nasal bridge anteverted nares high palate tented upper lip) may constitute additional clinical features.
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
TBCK-related intellectual disability syndrome?
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
TBCK Foundation
To advance research, advocate and educate, and support families impacted by TBCK Syndrome.
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
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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.