Contents

Search

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

General

pontocerebellar hypoplasia genetic disease of the central nervous system

Database Correlations

OMIM 611523

References

  1. UniProt :accession Q5T160
  2. OMIM :accession 611523