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"

8 matching diseasesClear search ×

Adult-onset progressive leukoencephalopathy-early-onset deafness

Adult-onset progressive leukoencephalopathy-early-onset hearing loss

ORPHA:652532

Early-onset calcifying leukoencephalopathy-skeletal dysplasia

BANDDOS · Brain abnormalities-neurodegeneration-dysosteosclerosis disease

ORPHA:556985

Early-onset progressive encephalopathy with migrant continuous myoclonus

ORPHA:1943

Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome

Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome · PEBAS

ORPHA:500144

Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome

Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome

ORPHA:3240

Progressive cavitating leukoencephalopathy

ORPHA:139447

Progressive multifocal leukoencephalopathy

PML · Progressive multifocal leukoencephalitis

ORPHA:217260

PYCR2-related microcephaly-progressive leukoencephalopathy

ORPHA:481152