HP:0000496 | Abnormality of eye movement | "An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson] |
Show
|
HP:0000648 | Optic atrophy | |
Show
|
HP:0000718 | Aggressive behavior | "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] |
Show
|
HP:0000726 | Dementia | |
Show
|
HP:0000743 | Frontal release signs | |
Show
|
HP:0001249 | Mental retardation | |
Show
|
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] |
Show
|
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] |
Show
|
HP:0001272 | Cerebellar atrophy | |
Show
|
HP:0001300 | Parkinsonism | |
Show
|
HP:0001332 | Dystonia | "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators] |
Show
|
HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
Show
|
HP:0001344 | Absent speech development | |
Show
|
HP:0001423 | X-linked dominant inheritance | "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators] |
Show
|
HP:0002059 | Cerebral atrophy | |
Show
|
HP:0002063 | Rigidity | |
Show
|
HP:0002067 | Bradykinesia | "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:curators] |
Show
|
HP:0002180 | Neurodegeneration | |
Show
|
HP:0002313 | Spastic paraparesis | |
Show
|
HP:0002360 | Sleep disturbances | "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators] |
Show
|
HP:0002448 | Encephalopathy, progressive | |
Show
|
HP:0002459 | Dysautonomia | |
Show
|
HP:0002465 | Poor speech | |
Show
|
HP:0012678 | Iron accumulation in substantia nigra | "An anomalous build up of iron (Fe) in the substantia nigra." [HPO:probinson] |
Show
|