CNTNAP2-related developmental and epileptic encephalopathy
ORPHA:163681· ICD-10 Q04.8
Definition
A rare, genetic, syndromic neurodevelopmental disorder characterized by moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy