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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Pontocerebellar hypoplasia type 5
Pontocerebellar hypoplasia type 4

TSEN54 TSEN54


COMMON
GENES
TSEN54



Citations in the biomedical literature:


Pontocerebellar hypoplasia type 5
TSEN54
Pontocerebellar hypoplasia type 4



Pontocerebellar hypoplasia type 5
Pontocerebellar hypoplasia type 4

Synonym(s):
- Fetal-onset olivopontocerebellar hypoplasia
- PCH5

Synonym(s):
- Fatal infantile encephalopathy with olivopontocerebellar hypoplasia
- Olivopontocerebellar hypoplasia
- PCH4

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
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 -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536716

No signs/symptoms info available.