ODCs

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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

Autosomal recessive progressive external ophthalmoplegia

POLG	(UniProt - OMIM)		POLG	(UniProt - OMIM)
			TK2	(UniProt - OMIM)

Citations in the biomedical literature:

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

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the eye and adnexa -

	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: - Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D002549		External references: 1 OMIM reference - No MeSH references

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
Autosomal recessive progressive external ophthalmoplegia
(no data available)