Rare Disease Library

HTRA1-related autosomal dominant cerebral small vessel disease

HTRA1-related autosomal dominant cerebral angiopathy

Autosomal dominant ACTN2-related distal myopathy

Autosomal dominant centronuclear myopathy

AD-CNM

Autosomal dominant cerebellar ataxia

ADCA · Autosomal dominant spinocerebellar ataxia

Autosomal dominant complex spastic paraplegia

Autosomal dominant complex HSP · Autosomal dominant complex SPG

Autosomal dominant distal myopathy

Autosomal dominant distal nebulin myopathy

Autosomal dominant myosin storage myopathy

MSMA

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant

Autosomal dominant pure spastic paraplegia

Autosomal dominant pure HSP · Autosomal dominant pure SPG

Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy

CADASIL · Hereditary multi-infarct dementia

COL4A1 or COL4A2-related cerebral small vessel disease

COL4A1 or COL4A2-related cerebral angiopathy

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

HTRA1-related cerebral small vessel disease

HTRA1-related cerebral angiopathy

ITM2B amyloidosis

ITM2B-related amyloidosis · ITM2B-related cerebral amyloid angiopathy

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

Renal pseudohypoaldosteronism type 1

Renal PHA1 · Autosomal dominant pseudohypoaldosteronism type 1

Sleep-related hypermotor epilepsy

ADNFLE · Autosomal dominant sleep-related hypermotor epilepsy