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Pontocerebellar hypoplasia type 6
1 OMIM reference -
1 associated gene
1 connected disease
No signs/symptoms info
Disease Type of connection
Pontocerebellar hypoplasia type 1
Synonym(s):
- Fatal infantile encephalopathy with mitochondrial respiratory chain defects
- PCH6
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C548074
Gene symbol UniProt reference OMIM reference
RARS2 Q5T160611524
No signs/symptoms info available.