| HP:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
|
| HP:0000529 | Progressive visual loss | |
Show
|
| HP:0000546 | Retinal degeneration | |
Show
|
| HP:0000550 | Abolished electroretinogram (ERG) | |
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:0000657 | Oculomotor apraxia | |
Show
|
| HP:0000666 | Nystagmus, horizontal | |
Show
|
| HP:0000750 | Impaired language development | |
Show
|
| HP:0001152 | Saccadic smooth pursuit | |
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: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: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:0001310 | Dysmetria | |
Show
|
| HP:0001311 | Neurophysiological abnormality | |
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:0002059 | Cerebral atrophy | |
Show
|
| HP:0002070 | Limb ataxia | |
Show
|
| HP:0002073 | Progressive cerebellar ataxia | |
Show
|
| HP:0002074 | Autofluorescent lipopigment in neurons | |
Show
|
| HP:0002136 | Broad-based gait | "An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia." [HPO:curators] |
Show
|
| HP:0002168 | Scanning speech | |
Show
|
| HP:0002174 | Postural tremor | "A type of tremors that is triggered by holding a limb in a fixed position." [HPO:curators] |
Show
|
| HP:0002312 | Clumsiness | |
Show
|
| HP:0002355 | Difficulty walking | |
Show
|
| HP:0002376 | Developmental regression | |
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:0003205 | Curvilinear profiles ultrastructurally | |
Show
|
| HP:0003445 | EMG shows neuropathic changes | |
Show
|
| HP:0003463 | Lipopigment in extraneuronal cells | |
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:0007240 | Progressive gait ataxia | |
Show
|
