Autozomálně dominantní
Caused by a change in one copy of the MAPK8IP3 gene (also called JIP3), which links motor proteins to cargo during transport along axons. Several reported changes arose de novo.
Příznaky a projevy
Developmental delay and intellectual disability, often with low muscle tone or, in some, increased muscle tone or spasticity. Many have differences on brain MRI, such as a thin corpus callosum (reported in about 62% of people in one study) or cerebral atrophy. Other features include seizures, attention problems, strabismus and microcephaly.
Co se diagnózou změní
Developmental, educational and therapy support, with neurology, eye and behavioural assessment as needed. Several changes have arisen de novo, so genetic counselling and parental testing can guide recurrence risk.
Analyzované geny
Známé také jako
NEDBA
