Rare Disease Library

Complex regional pain syndrome type 1

Algodystrophy · Reflex sympathetic dystrophy

4H leukodystrophy

POLR-related leukodystrophy

Adrenomyodystrophy

Facioscapulohumeral dystrophy

Landouzy-Dejerine dystrophy · FSH dystrophy

Hereditary motor and sensory neuropathy with acrodystrophy

AR-CMT2 with acrodystrophy · Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy

Leukodystrophy

North Carolina macular dystrophy

CAPE dystrophy · CAPED

Progressive cone dystrophy

Cone dystrophy

Trichothiodystrophy