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"

2 matching diseasesClear search ×

Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome

Kyphoscoliosis-lateral tongue atrophy-HSP syndrome

ORPHA:496689

Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome

ORPHA:496686