Rare Disease Library

Early-onset X-linked optic atrophy

Non-Leber type optic atrophy with early-onset · OPA2

3-methylglutaconic aciduria type 3

Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3

Autosomal dominant optic atrophy

DOA · ADOA

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant

Autosomal dominant optic atrophy, classic form

Autosomal dominant optic atrophy, Kjer type · Kjer optic atrophy

Autosomal recessive optic atrophy, OPA7 type

Leber hereditary optic neuropathy

LHON · Leber optic atrophy

OBSOLETE: Autosomal recessive optic atrophy, OPA6 type

OBSOLETE: Autosomal recessive optic atrophy, OPA9 type

OBSOLETE: Genetic optic atrophy

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy