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Несиндромна гіпоплазія мозочка

ORPHA:98523· Non-syndromic pontocerebellar hypoplasia

Визначення(English summary)

A rare group of neurodegenerative disorders with a prenatal onset characterized by hypoplasia and/or atrophy of the cerebellum and pons. Involvement of supratentorial structures is variable. Multiple forms have been described based on severity, age of onset and clinical presentation.

Поширеність
Unknown
Успадкування
Autosomal recessive
Вік початку
Antenatal, Infancy, Neonatal