Autozomálně dominantní
Caused by changes in one copy of the TCF20 gene, a regulator of gene activity in the developing brain. Most changes stop the gene from working and most arise de novo, though some are inherited from a parent with symptoms.
Příznaky a projevy
Developmental delay, including motor delay, with variable intellectual disability. Autism and other behavioural differences are common, as are low muscle tone and craniofacial features. Some people also have seizures, sleep disturbances or movement disorders.
Co se diagnózou změní
Developmental, speech, educational and behavioural support, with physiotherapy for low muscle tone. Most cases arise de novo, but a parent can carry the change, so genetic counselling and parental testing guide recurrence risk.
Analyzované geny
Známé také jako
DDVIBA; TCF20-related disorder; TCF20-related syndrome
