spasticity-ataxia-gait anomalies syndrome
MONDO:0014803Mondo
Findings
No curated finding names spasticity-ataxia-gait anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
36 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.
- HyperglycinemiaHPOHP:0002154
- 8 of 8 reported patients
- Reduced tissue glycine cleavage enzyme activityHPOHP:6000829
- 2 of 2 reported patients
- Nonketotic hyperglycinemiaHPOHP:0008288
- Very frequent (80% to 99% of cases)
- Progressive spasticityHPOHP:0002191
- Very frequent (80% to 99% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Decreased activity of the pyruvate dehydrogenase complexHPOHP:0002928
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- Frequent (30% to 79% of cases)
- LeukodystrophyHPOHP:0002415
- Frequent (30% to 79% of cases)
- Loss of ability to walk in early childhoodHPOHP:0008945
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- Optic atrophyHPOHP:0000648
- Frequent (30% to 79% of cases)
Reported absent (1)
- Cognitive impairmentHPOHP:0100543
Show the remaining 24
- Short attention spanHPOHP:0000736
- Frequent (30% to 79% of cases)
- Spastic diplegiaHPOHP:0001264
- Frequent (30% to 79% of cases)
- Spastic dysarthriaHPOHP:0002464
- Frequent (30% to 79% of cases)
- Spinal cord lesionHPOHP:0100561
- Frequent (30% to 79% of cases)
- Unsteady gaitHPOHP:0002317
- Frequent (30% to 79% of cases)
- Visual impairmentHPOHP:0000505
- Frequent (30% to 79% 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.
- GLRX5HGNC:20134
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: spasticity-ataxia-gait anomalies syndrome
- Also called
- childhood-onset spasticity with variant non-ketotic hyperglycinemiaSPAHGCspasticity, childhood-onset, with hyperglycinemia