| BEHR SYNDROME (BEHRS) | |
| OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES | |
|
210000
OMIM = Online Mendelian Inheritance of Men | |
| Dynamin-like 120 kDa protein, mitochondrial | |
very rare autosomal recessive mutations in the OPA1 gene | |
| Laboratory findings | L-Lactic acid inc (cerebrospinal fluid) |
| Symptoms | ataxia blindness, visual loss, visual impairment hyperreflexia hypertonia, spasticity neuropathy nystagmus optic atrophy cerebellar atrophy or hypoplasia contractures, joints developmental delay mental retardation onset, adolescent onset, childhood pyramidal signs tremor or twitching |