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Autosomal dominant optic atrophy and peripheral neuropathy
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive spastic paraplegia type 7
Microcephaly-capillary malformation syndrome
Cardiomyopathy - hypotonia - lactic acidosis
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
SPG7 Q9UQ90602783
No signs/symptoms info available.