| 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:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
Show
|
| HP:0000520 | Proptosis | |
Show
|
| HP:0000544 | External ophthalmoplegia | |
Show
|
| HP:0000623 | Supranuclear ophthalmoplegia | |
Show
|
| HP:0000640 | Gaze-evoked nystagmus | "Nystagmus made apparent by looking to the right or to the left." [HPO:curators] |
Show
|
| HP:0000641 | Dysmetric saccades | |
Show
|
| HP:0000651 | Diplopia | "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." [HPO:curators] |
Show
|
| HP:0000726 | Dementia | |
Show
|
| HP:0001151 | Impaired horizontal smooth pursuit | "An `abnormality of ocular smooth pursuit` (HP:0000617) characterized by an impairment of the ability to track horizontally moving objects." [HPO:probinson] |
Show
|
| 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] |
Show
|
| HP:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [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: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:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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:0002070 | Limb ataxia | |
Show
|
| HP:0002073 | Progressive cerebellar ataxia | |
Show
|
| HP:0002078 | Truncal ataxia | |
Show
|
| HP:0002171 | Gliosis | |
Show
|
| HP:0002172 | Postural instability | |
Show
|
| HP:0002198 | Enlarged fourth ventricle | |
Show
|
| HP:0002380 | Fasciculations | "Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units." [HPO:curators] |
Show
|
| HP:0002459 | Dysautonomia | |
Show
|
| HP:0002495 | Impaired vibratory sense | "A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient." [HPO:curators] |
Show
|
| HP:0002503 | Spinocerebellar tract degeneration | |
Show
|
| HP:0002839 | Sphincter disturbances (bladder) | |
Show
|
| HP:0003394 | Muscle cramps | |
Show
|
| HP:0003438 | Absent ankle reflexes | |
Show
|
| HP:0003487 | Babinski sign | "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators] |
Show
|
| HP:0003676 | Progressive disorder | |
Show
|
| HP:0003693 | Distal amyotrophy | "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
Show
|
| HP:0003743 | Genetic anticipation | |
Show
|
| HP:0007089 | Facial-lingual fasciculations | "Fasciculations affecting the tongue muscle and the musculature of the face." [HPO:curators] |
Show
|
| HP:0012532 | Chronic pain | "Persistent pain, usually defined as pain that has laster longer than 3 to 6 months." [HPO:probinson, pmid:1875958] |
Show
|
| HP:0030454 | Abnormal electrooculogram | "The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation." [pmid:21298321] |
Show
|
