Lissencephaly type 1 due to doublecortin gene mutation
ORPHA:2148· ICD-10 Q04.3
Definition
Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.
- Prevalence
- Unknown
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal