Neurodevelopmental Disorder with Nonspecific Brain Abnormalities and with or without Seizures
Autoszomális domináns
Caused by a change in one copy of DLL1, a signalling protein in the Notch pathway that guides brain development. The evidence supports loss of one working copy (haploinsufficiency) as the cause.
Tünetek és jelek
Developmental delay and intellectual disability of variable severity, often with autism or behavioural differences. Seizures, low muscle tone and variable brain malformations are common. Scoliosis is also among the most common features.
Mit változtat a diagnózis
Developmental, educational and behavioural support, with seizure treatment where needed. Genetic counselling and parental testing help guide recurrence risk.
Vizsgált gének
Más néven
NEDBAS
