| 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] |
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| HP:0000012 | Urinary urgency | |
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| HP:0000020 | Urinary incontinence | "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken] |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000708 | Behavioural/Psychiatric Abnormality | |
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| HP:0000802 | Impotence | |
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| HP:0001249 | Mental retardation | |
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| 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] |
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| 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] |
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| HP:0001272 | Cerebellar atrophy | |
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| HP:0001310 | Dysmetria | |
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| HP:0001320 | Cerebellar vermis hypoplasia | |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001634 | Mitral valve prolapse | |
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| HP:0001760 | Abnormality of the feet | "An abnormality of the feet (foot deformity) is a disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, Congenital vertical talus (rocker bottom foot) & etc." [HPO:curators] |
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| HP:0001761 | Pes cavus | |
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| HP:0001765 | Hammer toes | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002061 | Lower limb spasticity | |
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| HP:0002066 | Gait ataxia | "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators] |
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| HP:0002073 | Progressive cerebellar ataxia | |
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| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
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| HP:0002080 | Intention tremor | "An oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient s nose or a physician s finger)." [HPO:curators] |
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| HP:0002166 | Decreased vibratory sense in the lower limbs | "A decrease in the ability to perceive vibration in the legs." [HPO:curators] |
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| HP:0002168 | Scanning speech | |
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| HP:0002317 | Unsteady gait | |
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| HP:0002355 | Difficulty walking | |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| 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] |
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| HP:0002497 | Spastic ataxia | |
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| HP:0002527 | Falls | |
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| HP:0002936 | Distal sensory impairment | |
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| HP:0003387 | Loss of large myelinated fibers | |
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| HP:0003431 | Decreased motor nerve conduction velocity (NCV) | |
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| HP:0003438 | Absent ankle reflexes | |
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| HP:0003448 | Decreased sensory nerve conduction velocities (NCV) | |
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| 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] |
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| HP:0003593 | Early onset | |
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| HP:0003693 | Distal amyotrophy | "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
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| HP:0006150 | Swan neck-like deformities of the fingers | "A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformitie is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson s disease, or stroke." [HPO:curators] |
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| HP:0006855 | Cerebellar vermis atrophy | |
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| HP:0007001 | Loss of purkinje cells in the cerebellar vermis | |
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| HP:0007108 | Demyelinating peripheral neuropathy | |
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| HP:0007141 | Sensorimotor neuropathy | |
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| HP:0007221 | Truncal ataxia, progressive | |
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| HP:0007240 | Progressive gait ataxia | |
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| HP:0007361 | Abnormality of the pons | |
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| HP:0007772 | Impaired smooth pursuit in adult patients | |
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| HP:0007922 | Hypermyelinated retinal fibers | |
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| HP:0007979 | Gaze-evoked horizontal nystagmus | "Horizontal nystagmus made apparent by looking to the right or to the left." [HPO:curators] |
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| HP:0009027 | Foot dorsiflexor weakness | |
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| HP:0010830 | Loss of touch sensation | |
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| HP:0011931 | Abnormality of the cerebellar peduncle | "An anomaly of the `cerebellar peduncles` (FMA:77791). The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum." [HPO:probinson] |
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| HP:0012104 | Parietal cortical atrophy | "Atrophy of the `parietal cortex` (FMA:61826)." [HPO:probinson] |
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| HP:0012896 | Abnormal motor evoked potentials | "An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways." [HPO:probinson, pmid:10402095] |
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| HP:0100702 | Arachnoid cyst | "Arachnoid cysts are filled with cerebrospinal fluid encased by arachnoidal cells." [HPO:sdoelken] |
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