Behr Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the OPA1 gene, encoding dynamin-like 120 kDa protein, mitochondrial. It is characterized by optic atrophy and neurological features, which may include ophthalmoparesis, nystagmus, spastic paraparesis, ataxia, peripheral neuropathy and learning difficulties.

**Synonyms:** - BEHRS