Rare Disease Library

Late-onset retinal degeneration

Autosomal dominant late-onset retinal degeneration · LORD

Adult-onset autosomal dominant leukodystrophy

ADLD · Adult-onset autosomal dominant demyelinating leukodystrophy

Autosomal dominant adult-onset proximal spinal muscular atrophy

Autosomal dominant adult-onset proximal SMA · Autosomal dominant late-onset spinal muscular atrophy, Finkel type

Autosomal dominant cutis laxa

ADCL

Autosomal dominant distal hereditary motor neuropathy

Autosomal dominant dHMN · Autosomal dominant distal spinal muscular atrophy

Autosomal dominant keratitis

Hereditary keratitis

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant

Autosomal dominant rhegmatogenous retinal detachment

Autosomal dominant striatal neurodegeneration

ADSD

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

Early-onset autosomal dominant Alzheimer disease

EOFAD · Early-onset familial autosomal dominant Alzheimer disease

Hereditary late-onset Parkinson disease

Autosomal dominant late-onset Parkinson disease · LOPD

MME-related autosomal dominant Charcot Marie Tooth disease type 2

MME-related autosomal dominant CMT2 · MME-related autosomal dominant hereditary motor and sensory neuropathy type 2

OBSOLETE: Autosomal dominant coarctation of aorta

OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness

Renal pseudohypoaldosteronism type 1

Renal PHA1 · Autosomal dominant pseudohypoaldosteronism type 1