Miller-Dieker syndrome
ORPHA:531· ICD-10 Q04.3
Definition
A rare contiguous gene deletion syndrome of chromosome 17p13.3 characterized by classical lissencephaly, distinct facial dysmorphism, seizures and severe to profound intellectual disability. Additional congenital malformations can be part of the condition.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal