TBCK-related intellectual disability syndrome

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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 June 2024

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TBCK-related intellectual disability syndrome?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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