Phenotypes associated with the disease amyotrophic lateral sclerosis type 22 (OMIM:616208):
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 3/8. (PMID:25374358)
- Frontotemporal dementia (HP:0002145): A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. Evidence: PCS. Frequency: 2/8. (PMID:25374358)
- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 5/8. (PMID:25374358)
- Amyotrophic lateral sclerosis (HP:0007354). Evidence: PCS. Frequency: 8/8. (PMID:25374358)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:25374358)