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1 OMIM reference -
1 associated gene
4 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Ataxia - oculomotor apraxia type 1
Nestor-Guillermo progeria syndrome

APTX BANF1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APTX
(0.63)
BANF1



Citations in the biomedical literature:


Ataxia - oculomotor apraxia type 1
APTX
Nestor-Guillermo progeria syndrome
BANF1



Ataxia - oculomotor apraxia type 1
Nestor-Guillermo progeria syndrome

Synonym(s):
- AOA1

Synonym(s):
- NGPS

Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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

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

Ataxia - oculomotor apraxia type 1

Very frequent
- Abnormal gait
- Ataxia / incoordination / trouble of the equilibrium
- Flared eyebrows
- Functional anomalies of the nervous system



Nestor-Guillermo progeria syndrome

(no data available)