| 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] |
Show
|
| HP:0001260 | Dysarthria | "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] |
Show
|
| HP:0001265 | Hyporeflexia | |
Show
|
| HP:0001272 | Cerebellar atrophy | |
Show
|
| HP:0001336 | Myoclonus | "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators] |
Show
|
| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
Show
|
| HP:0001962 | Palpitations | |
Show
|
| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
Show
|
| HP:0002066 | Gait ataxia | "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators] |
Show
|
| HP:0002070 | Limb ataxia | |
Show
|
| HP:0002073 | Progressive cerebellar ataxia | |
Show
|
| HP:0002078 | Truncal ataxia | |
Show
|
| HP:0002174 | Postural tremor | "A type of tremors that is triggered by holding a limb in a fixed position." [HPO:curators] |
Show
|
| HP:0002396 | Cogwheel rigidity | |
Show
|
| HP:0003677 | Slow progression | |
Show
|
| HP:0007944 | Intermittent microsaccadic pursuits | |
Show
|
| HP:0007979 | Gaze-evoked horizontal nystagmus | "Horizontal nystagmus made apparent by looking to the right or to the left." [HPO:curators] |
Show
|
| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
Show
|
