spastic paraplegia-nephritis-deafness syndrome
MONDO:0008440Mondo
Findings
No curated finding names spastic paraplegia-nephritis-deafness syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy.
Definition from the Mondo Disease Ontology (MONDO:0008440), read 2026-09-29. CC BY 4.0.
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- NephropathyHPOHP:0000112
- Very frequent (80% to 99% of cases)
- ParaplegiaHPOHP:0010550
- Very frequent (80% to 99% of cases)
- ProteinuriaHPOHP:0000093
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- SpasticityHPOHP:0001257
- Very frequent (80% to 99% of cases)
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Occasional (5% to 29% of cases)
- Severe short statureHPOHP:0003510
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: spastic paraplegia-nephritis-deafness syndrome
- Also called
- Fitzsimmons-Walson-Mellor syndrome