kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
MONDO:0044648Mondo
Findings
No curated finding names kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
19 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.
- Delayed gross motor developmentHPOHP:0002194
- Frequent (30% to 79% of cases)
- Difficulty runningHPOHP:0009046
- Frequent (30% to 79% of cases)
- Difficulty standingHPOHP:0003698
- Frequent (30% to 79% of cases)
- KyphoscoliosisHPOHP:0002751
- Frequent (30% to 79% of cases)
- Lower limb amyotrophyHPOHP:0007210
- Frequent (30% to 79% of cases)
- Lower limb hyperreflexiaHPOHP:0002395
- Frequent (30% to 79% of cases)
- Lower limb spasticityHPOHP:0002061
- Frequent (30% to 79% of cases)
- Muscle spasmHPOHP:0003394
- Frequent (30% to 79% of cases)
- PainHPOHP:0012531
- Frequent (30% to 79% of cases)
- Progressive spastic paraplegiaHPOHP:0007020
- Frequent (30% to 79% of cases)
- Proximal upper limb muscle weaknessHPOHP:0008997
- Frequent (30% to 79% of cases)
- Talipes equinovarusHPOHP:0001762
- Frequent (30% to 79% of cases)
Reported absent (3)
- Abnormal circulating creatine kinase activityHPOHP:0040081
- Cerebellar atrophyHPOHP:0001272
- Cerebral atrophyHPOHP:0002059
Show the remaining 7
- Tip-toe gaitHPOHP:0030051
- Frequent (30% to 79% of cases)
- Tongue atrophyHPOHP:0012473
- Frequent (30% to 79% of cases)
- Upper limb amyotrophyHPOHP:0009129
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Occasional (5% to 29% of cases)
- DysphagiaHPOHP:0002015
- Occasional (5% to 29% of cases)
- Intellectual disabilityHPOHP:0001249
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KYHGNC:26576
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
- Also called
- kyphoscoliosis-lateral tongue atrophy-HSP syndrome