frontotemporal dementia and/or amyotrophic lateral sclerosis 2
MONDO:0014395Mondo
Findings
No curated finding names frontotemporal dementia and/or amyotrophic lateral sclerosis 2 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 · Progressive
HPO, annotations 2026-09-02
Features
14 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.
- AreflexiaHPOHP:0001284
- 6 of 6 reported patients
- DysarthriaHPOHP:0001260
- 8 of 8 reported patients
- Frontotemporal dementiaHPOHP:0002145
- 7 of 7 reported patients
- Cognitive impairmentHPOHP:0100543
- 7 of 8 reported patients
- Babinski signHPOHP:0003487
- 6 of 8 reported patients
- DysphagiaHPOHP:0002015
- 6 of 8 reported patients
- AtaxiaHPOHP:0001251
- 5 of 8 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 4 of 8 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 8 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 6 reported patients
- Neurogenic bladderHPOHP:0000011
- 1 of 8 reported patients
- PtosisHPOHP:0000508
- 1 of 8 reported patients
Show the remaining 2
- Amyotrophic lateral sclerosisHPOHP:0007354
- Bulbar palsyHPOHP:0001283
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.
- CHCHD10HGNC:15559
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · ClinGen · Autosomal dominant · 2022
Where it sits
Other names
2 names
Resolves to: frontotemporal dementia and/or amyotrophic lateral sclerosis 2
- Also called
- frontotemporal dementia and/or amyotrophic lateral sclerosis type 2FTDALS2