spastic tetraplegia and axial hypotonia, progressive
MONDO:0032828Mondo
Findings
No curated finding names spastic tetraplegia and axial hypotonia, progressive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
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.
- Abnormal pyramidal signHPOHP:0007256
- 1 of 1 reported patient
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Ankle clonusHPOHP:0011448
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 2 of 2 reported patients
- Babinski signHPOHP:0003487
- 2 of 2 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Exaggerated startle responseHPOHP:0002267
- 1 of 1 reported patient
- HyperreflexiaHPOHP:0001347
- 1 of 1 reported patient
- HypertoniaHPOHP:0001276
- 1 of 1 reported patient
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
Show the remaining 7
- Lower limb spasticityHPOHP:0002061
- 1 of 1 reported patient
- MyokymiaHPOHP:0002411
- 1 of 1 reported patient
- Overlapping toeHPOHP:0001845
- 1 of 1 reported patient
- PolyhydramniosHPOHP:0001561
- 1 of 1 reported patient
- Posteriorly rotated earsHPOHP:0000358
- 1 of 1 reported patient
- Spastic tetraparesisHPOHP:0001285
- 1 of 1 reported patient
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.
- SOD1HGNC:11179
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Limited · Ambry Genetics · Autosomal recessive · 2021
Where it sits
- A kind of