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1 OMIM reference -
1 associated gene
10 signs/symptoms
COMMON GENES: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Alpers syndrome
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis

POLG C10ORF2
POLG


COMMON
GENES
POLG



Citations in the biomedical literature:


Alpers syndrome
POLG
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
C10ORF2



Alpers syndrome
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis

Synonym(s):
- Alpers progressive sclerosing poliodystrophy
- Alpers-Huttenlocher syndrome
- Progressive neuronal degeneration of childhood with liver disease

Synonym(s):
- SANDO

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: D002549
External references:
1 OMIM reference -
1 MeSH reference: C537583

Alpers syndrome

Frequent
- Anomalies of eyes and vision
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Movement disorder
- Seizures / epilepsy / absences / spasms / status epilepticus



Sensory ataxic neuropathy - dysarthria - ophthalmoparesis

(no data available)