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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"
Spastic ataxia-corneal dystrophy syndrome
Bedouin spastic ataxia syndrome · Mousa-Al Din-Al Nassar syndrome
Ataxia-pancytopenia syndrome
ATXPC syndrome · SAMD9L-related ataxia-pancytopenia syndrome
Childhood-onset spasticity with hyperglycinemia
Childhood-onset spasticity with variant non-ketotic hyperglycinemia · Spasticity-ataxia-gait anomalies syndrome
Opsoclonus-myoclonus syndrome
Ataxo-opso-myoclonus syndrome · Dancing eye syndrome
Spastic ataxia
SPAX