Spastic paraplegia-nephritis-deafness syndrome

Orpha code: 2820OMIM code: 182690

Definicja

Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988.

Disease data
Klasyfikacja

Clinical syndrome

Synonimy
Fitzsimmons-Walson-Mellor syndrome
Zespół Fitzsimmonsa, Walsona i Mellora
Spastic paraplegia-nephritis-hearing loss syndrome
Kod ORPHA
2820
Kod OMIM
182690
Kod ICD10
G11.4
Kod ICD11
LD2H.Y

No additional description.

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