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"

3 matching diseasesClear search ×

Progressive myoclonic epilepsy with neuroserpin inclusion bodies

Early onset familial encephalopathy with neuroserpin inclusion bodies

ORPHA:530298

Familial encephalopathy with neuroserpin inclusion bodies

FENIB

ORPHA:85110

Progressive dementia with neuroserpin inclusion bodies

Late-onset familial encephalopathy with neuroserpin inclusion bodies

ORPHA:530303