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1 OMIM reference -
2 associated genes
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
7 signs/symptoms
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Infantile onset spinocerebellar ataxia

C10ORF2 C10ORF2
POLG


COMMON
GENES
C10ORF2



Citations in the biomedical literature:


Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
C10ORF2 POLG
Infantile onset spinocerebellar ataxia



Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Infantile onset spinocerebellar ataxia

Synonym(s):
- SANDO

Synonym(s):
- IOSCA
- Ohaha syndrome
- Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis

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

External references:
1 OMIM reference -
1 MeSH reference: C537583
External references:
1 OMIM reference -
1 MeSH reference: C535523

Infantile onset spinocerebellar ataxia

Very frequent
- Areflexia / hyporeflexia
- Ataxia / incoordination / trouble of the equilibrium
- Functional anomalies of the nervous system
- Hearing loss / hypoacusia / deafness
- Movement disorder
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Optic nerve anomaly / optic atrophy / anomaly of the papilla



Sensory ataxic neuropathy - dysarthria - ophthalmoparesis

(no data available)