amyotrophic lateral sclerosis type 2, juvenile
Findings
No curated finding names amyotrophic lateral sclerosis type 2, juvenile yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene.
Definition from the Mondo Disease Ontology (MONDO:0008780), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
32 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.
- SpasticityHPOHP:0001257
- 3 of 3 reported patients
- AnarthriaHPOHP:0002425
- 2 of 3 reported patients
- Limb joint contractureHPOHP:0003121
- 2 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 3 reported patients
- ScoliosisHPOHP:0002650
- 2 of 3 reported patients
- Abnormal speech patternHPOHP:0002167
- 1 of 3 reported patients
- Arm dystoniaHPOHP:0031960
Show the remaining 20
- DystoniaHPOHP:0001332
- 1 of 3 reported patients
- Gait disturbanceHPOHP:0001288
- 1 of 3 reported patients
- Generalized dystoniaHPOHP:0007325
- 1 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 3 reported patients
- Head titubationHPOHP:0002599
- 1 of 3 reported patients
- HyperreflexiaHPOHP:0001347
- 1 of 3 reported patients
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.
- ALS2HGNC:443
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: amyotrophic lateral sclerosis type 2, juvenile
- Also called
- ALS2ALS2 amyotrophic lateral sclerosisamyotrophic lateral sclerosis 2, juvenileamyotrophic lateral sclerosis caused by mutation in ALS2