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