| 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:0000504 | Abnormality of vision | "Abnormality of eyesight (visual perception)." [HPO:curators] |
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| HP:0000657 | Oculomotor apraxia | |
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| HP:0000708 | Behavioural/Psychiatric Abnormality | |
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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: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:0001259 | Coma | |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001276 | Hypertonia | |
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| HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [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:0001297 | Stroke | |
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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:0001342 | Cerebral hemorrhage | "A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself." [HPO:curators] |
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| HP:0001425 | Heterogeneous | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002076 | Migraine | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002185 | Neurofibrillary tangles | |
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| HP:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators] |
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| HP:0002354 | Memory impairment | |
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| HP:0002373 | Febrile seizures | "Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two." [HPO:curators] |
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| HP:0002381 | Aphasia | |
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| HP:0002423 | Long-tract signs | |
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| HP:0002463 | Language impairment | |
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| HP:0002511 | Alzheimer disease | |
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| HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
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| HP:0002637 | Cerebral ischemia | |
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| HP:0003401 | Paresthesia | "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] |
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| HP:0003474 | Sensory impairment | |
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| HP:0003791 | Deposits immunoreactive to beta-amyloid protein | |
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| HP:0004938 | Tortuous cerebral arteries | |
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| HP:0004968 | recurrent cerebral and cerebellar hemorrhage | |
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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:0011695 | Cerebellar hemorrhage | "`Hemorrhage` (MPATH:119) into the parenchyma of the cerebellum." [HPO:probinson] |
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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:0100613 | Death in early adulthood | |
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| HP:0410054 | Decreased level of GABA in serum | "A decrease in the level of GABA in the serum." [PMID:1485027] |
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