C169000Level 7
Optic Atrophy 1
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal dominant form of hereditary optic atrophy caused by mutation(s) in the OPA1 gene, encoding dynamin-like 120 kDa protein, mitochondrial.
**Synonyms:** - Kjer-type Optic Atrophy - OPA1
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