Лісенцефалія з гіпоплазією мозочка, тип D
ORPHA:100014· ICD-10 Q04.3· Lissencephaly with cerebellar hypoplasia type D
Визначення(English summary)
A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (≤ -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.
- Вік початку
- Antenatal, Neonatal