Мікролісенцефалія
ORPHA:1083· ICD-10 Q04.3· Microlissencephaly
Визначення(English summary)
Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal