Phenotypes associated with the disease Early-onset Alzheimer disease with cerebral amyloid angiopathy (DECIPHER:48):
- 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: IEA. (DECIPHER:48)
- 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: IEA. (DECIPHER:48)
- Senile plaques (HP:0100256): Senile plaques are extracellular deposits of amyloid in the gray matter of the brain. Evidence: IEA. (DECIPHER:48)