- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: TAS. (OMIM:615080)
- Dementia (HP:0000726): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: TAS. (OMIM:615080)
- Deposits immunoreactive to beta-amyloid protein (HP:0003791). Evidence: TAS. (OMIM:615080)
- Neurofibrillary tangles (HP:0002185): Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form. Evidence: TAS. (OMIM:615080)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:38899702)
- Senile plaques (HP:0100256): Senile plaques are extracellular deposits of amyloid in the gray matter of the brain. Evidence: TAS. (OMIM:615080)
- Alzheimer disease (HP:0002511): A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads. Evidence: TAS. (OMIM:615080)
These phenotypes are associated with the disease Alzheimer disease 17 (OMIM:615080).