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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"
Scapuloperoneal spinal muscular atrophy
Kugelberg-Welander disease · Neurogenic scapuloperoneal amyotrophy, New England type
Neurogenic scapuloperoneal syndrome, Kaeser type
Kaeser syndrome · Stark-Kaeser syndrome
Progressive scapulohumeroperoneal distal myopathy
X-linked scapuloperoneal muscular dystrophy
X-linked SPMD · X-linked scapuloperoneal syndrome