Гіпоплазія мозочка, тип 12
ORPHA:611256· ICD-10 Q04.3· Pontocerebellar hypoplasia type 12
Визначення(English summary)
A lethal form of pontocerebellar hypoplasia characterized by prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Antenatal, Neonatal