Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

4 matching diseasesClear search ×

Early-onset generalized limb-onset dystonia

Dystonia musculorum deformans · EOTD

ORPHA:256

Dystonia 16

DYT16 · Early-onset dystonia parkinsonism

ORPHA:210571

Early-onset autoinflammatory syndrome due to A20 haploinsufficiency

Early-onset AID due to HA20 · Early-onset autoinflammatory disorder due to HA20

ORPHA:674762

OBSOLETE: Autosomal dominant focal dystonia, DYT7 type

OBSOLETE: Adult-onset focal torsion dystonia · OBSOLETE: Adult-onset idiopathic torsion dystonia

ORPHA:93963