autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction
MONDO:0044737Mondo
Findings
No curated finding names autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
22 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.
- Ankle clonusHPOHP:0011448
- Obligate (100% of cases)
- Delayed gross motor developmentHPOHP:0002194
- Obligate (100% of cases)
- Lower limb hyperreflexiaHPOHP:0002395
- Obligate (100% of cases)
- MicrocephalyHPOHP:0000252
- Obligate (100% of cases)
- Moderately short statureHPOHP:0008848
- Obligate (100% of cases)
- Nasal dysarthriaHPOHP:0008376
- Obligate (100% of cases)
- Progressive spastic paraparesisHPOHP:0007199
- Obligate (100% of cases)
- Progressive spastic paraplegiaHPOHP:0007020
- Obligate (100% of cases)
- Progressive spasticityHPOHP:0002191
- Obligate (100% of cases)
- Retinal pigment epithelial mottlingHPOHP:0007814
- Obligate (100% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Bifid uvulaHPOHP:0000193
- Frequent (30% to 79% of cases)
Show the remaining 10
- Central retinal vessel vascular tortuosityHPOHP:0007768
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- Demyelinating motor neuropathyHPOHP:0007220
- Frequent (30% to 79% of cases)
- Hyporeflective spaces on macular OCTHPOHP:0030625
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- Reduced visual acuityHPOHP:0007663
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction
- Also called
- autosomal recessive complex SPG due to Kennedy pathway dysfunction