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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 associated genes
No signs/symptoms info
Early-onset spastic ataxia-neuropathy syndrome
Intermittent hydrarthrosis

AFG3L2 MEFV
TNFRSF1A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AFG3L2
(0.72)
TNFRSF1A



Citations in the biomedical literature:


Early-onset spastic ataxia-neuropathy syndrome
AFG3L2
Intermittent hydrarthrosis
MEFV TNFRSF1A



Early-onset spastic ataxia-neuropathy syndrome
Intermittent hydrarthrosis

Synonym(s):
- AFG3L2-associated spastic ataxia-neuropathy syndrome
- Autosomal recessive spastic ataxia type 5
- SPAX5

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

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

No signs/symptoms info available.