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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 paraplegia-nephritis-deafness syndrome
Spastic paraplegia-nephritis-hearing loss syndrome · Fitzsimmons-Walson-Mellor syndrome
OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome
OBSOLETE: Fitzsimmons-Guilbert syndrome
Paraplegia-intellectual disability-hyperkeratosis syndrome
Fitzsimmons-McLachlan-Gilbert syndrome