Spastic paraplegia-nephritis-deafness syndrome

Orpha code: 2820OMIM code: 182690

Definition

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
Classification

Clinical syndrome

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl