amyotrophic lateral sclerosis type 23
MONDO:0027694Mondo
Findings
No curated finding names amyotrophic lateral sclerosis type 23 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset
HPO, annotations 2026-09-02
Features
4 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.
- Amyotrophic lateral sclerosisHPOHP:0007354
- 12 of 12 reported patients
- DysphagiaHPOHP:0002015
- 6 of 12 reported patients
- DementiaHPOHP:0000726
- 0 of 12 reported patients
- Degeneration of anterior horn cellsHPOHP:0002398
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.
- ANXA11HGNC:535
- Definitive · ClinGen · Autosomal dominant · 2021
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: amyotrophic lateral sclerosis type 23
- Also called
- ALS23