| HP:0000006 | Autosomal dominant inheritance | "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." [HPO:curators] |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000504 | Abnormality of vision | "Abnormality of eyesight (visual perception)." [HPO:curators] |
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| HP:0000657 | Oculomotor apraxia | |
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| HP:0000713 | Agitation | |
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| HP:0000726 | Dementia | |
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| HP:0000734 | Disinhibition | |
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| HP:0000738 | Hallucinations | |
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| HP:0000982 | Palmoplantar keratoderma | |
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| HP:0001249 | Mental retardation | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001276 | Hypertonia | |
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| HP:0001279 | Syncope | "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators] |
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| HP:0001289 | Confusion | "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators] |
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| HP:0001300 | Parkinsonism | |
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| HP:0001336 | Myoclonus | "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators] |
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| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0001644 | Dilated cardiomyopathy | |
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| HP:0001874 | Abnormality of neutrophil | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002185 | Neurofibrillary tangles | |
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| HP:0002354 | Memory impairment | |
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| HP:0002381 | Aphasia | |
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| HP:0002463 | Language impairment | |
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| HP:0002511 | Alzheimer disease | |
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| HP:0003198 | Myopathy | |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
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| HP:0003596 | Middle age onset | |
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| HP:0003791 | Deposits immunoreactive to beta-amyloid protein | |
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| HP:0006979 | Sleep-wake cycle disturbance | |
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| HP:0010525 | Finger agnosia | "An inability or difficulty differentiating among the fingers of either hand as well as the hands of others." [HPO:curators] |
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| HP:0010526 | Dysgraphia | "A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment." [HPO:curators] |
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| HP:0011970 | Cerebral amyloid angiopathy | "Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system." [HPO:probinson, pmid:21519520] |
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| HP:0012433 | Abnormal social behavior | "An abnormality of actions or reactions of a person taking place during interactions with others." [HPO:probinson] |
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| HP:0030219 | Semantic dementia | "A progressive loss of the ability to remember the meaning of words, faces and objects." [ICM:PCaroppo, pmid:24966676] |
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| HP:0100578 | Lipoatrophy | "Localized loss of fat tissue." [HPO:sdoelken] |
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