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 ×

Autosomal recessive spastic paraplegia type 39

SPG39 · Spastic paraplegia due to NTE mutation

ORPHA:139480

Mutilating hereditary sensory neuropathy with spastic paraplegia

Mutilating HSAN with spastic paraplegia

ORPHA:139578

Spastic paraplegia-neuropathy-poikiloderma syndrome

Antinolo-Nieto-Borrego syndrome

ORPHA:2821

Spastic paraplegia-optic atrophy-neuropathy syndrome

SPOAN

ORPHA:320406