Disease name
|
Autosomal dominant optic atrophy, classic type
Autosomal dominant optic atrophy, classic type
|
|
Marker gene
|
Gene symbol
|
Chromosome location
|
Protein name
|
OPA1
|
3q29 |
Dynamin-like 120 kDa protein, mitochondrial |
|
|
Inheritance
|
상염색체 우성 |
|
Age of onset
|
소아기 |
|
MIM number
|
165500
|
605293
|
610708
|
|
Synonym
|
Autosomal dominant optic atrophy, Kjer type |
Kjer disease |
|
Summary
|
Under development. |
|