pontocerebellar hypoplasia type 6; fatal infantile encephalopathy with mitochondrial respiratory chain defects

Pathology

• mitochondrial respiratory chain defects
• abnormally small cerebellum & brainstem

Genetics

• associated with defects in RARS2

Clinical manifestations

• fatal infantile encephalopathy

More general terms

• pontocerebellar hypoplasia
• genetic disease of the central nervous system

Database

• OMIM: https://mirror.omim.org/entry/611523