Rare Disease Library

3-methylglutaconic aciduria type 3

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

Auditory neuropathy-optic atrophy syndrome

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

Autosomal dominant optic atrophy, classic form

Autosomal dominant optic atrophy, Kjer type · Kjer optic atrophy

Autosomal recessive isolated optic atrophy

Autosomal recessive non-syndromic optic atrophy

Choroidal atrophy-alopecia syndrome

Moloney syndrome · Regional choroidal atrophy and alopecia

Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

Deafness-opticoacoustic nerve atrophy-dementia syndrome

Jensen syndrome · hearing loss-opticoacoustic nerve atrophy-dementia syndrome

Early-onset X-linked optic atrophy

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

Huriez syndrome

Palmoplantar keratoderma-sclerodactyly syndrome · Palmoplantar hyperkeratosis-sclerodactyly syndrome

Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome

Axonal neuropathy-optic atrophy-cognitive deficit syndrome · ANOAC

Leber hereditary optic neuropathy

LHON · Leber optic atrophy

MEPAN syndrome

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome · Autosomal recessive childhood-onset dystonia, DYT29 type

OBSOLETE: Autosomal recessive syndromic optic atrophy

Optic atrophy-intellectual disability syndrome

BBSOAS · Bosch-Boonstra-Schaaf optic atrophy syndrome

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

ATRUS syndrome

Short stature-optic atrophy-Pelger-Huët anomaly syndrome

SOPH syndrome

Spastic ataxia-corneal dystrophy syndrome

Bedouin spastic ataxia syndrome · Mousa-Al Din-Al Nassar syndrome

Spastic paraplegia-optic atrophy-neuropathy syndrome

SPOAN

Spondylometaphyseal dysplasia-corneal dystrophy syndrome

SMD-corneal dystrophy syndrome

X-linked alpha-thalassemia-intellectual disability syndrome

ATR-X syndrome

X-linked intellectual disability-cerebellar hypoplasia syndrome

OPHN1 syndrome · Oligophrenin-1 syndrome