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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Severe early-childhood-onset retinal dystrophy
Rapid-onset dystonia-parkinsonism

LCA5 ATP1A3
LRAT
RPE65
SPATA7


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SPATA7
(0.63)
ATP1A3



Citations in the biomedical literature:


Severe early-childhood-onset retinal dystrophy
LCA5 LRAT RPE65 SPATA7
Rapid-onset dystonia-parkinsonism
ATP1A3



Severe early-childhood-onset retinal dystrophy
Rapid-onset dystonia-parkinsonism

Synonym(s):
- EOSRD
- Early-onset severe retinal dystrophy
- SECORD

Synonym(s):
- DYT12
- Dystonia 12

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

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

Epidemiological data:
Class of prevalence: -
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: normal
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.