Rare Disease Library

Acetazolamide-responsive myotonia

ACZ-responsive congenital myotonia · ACZ-responsive myotonia

Congenital abducens nerve palsy

Benign congenital sixth cranial nerve palsy · Congenital CNVI palsy

Congenital amyoplasia

Amyoplasia congenita

Congenital microcoria

Congenital miosis

Congenital myopathy

Congenital myopathy, Paradas type

Congenital myotonia

Congenital neutropenia

Constitutional neutropenia

Congenital ptosis

Congenital pulmonary vein atresia

Congenital PVA · CPVA

Congenital trochlear nerve palsy

Congenital superior oblique palsy · Congenital CNIV palsy

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

Megaconial congenital muscular dystrophy

Congenital megaconial myopathy · Congenital muscular dystrophy with mitochondrial structural abnormalities

Paramyotonia congenita of Von Eulenburg

Paramyotonia congenita

Thomsen and Becker disease

Myotonia congenita