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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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TBCK-related intellectual disability syndrome?
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