Дефіцит CDKL5
ORPHA:505652· ICD-10 G40.4· CDKL5-deficiency disorder
Визначення(English summary)
A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay.
- Поширеність
- Unknown
- Успадкування
- X-linked dominant
- Вік початку
- Infancy, Neonatal