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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