| 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:0000020 | Urinary incontinence | "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken] |
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| HP:0000529 | Progressive visual loss | |
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| HP:0000570 | Abnormality of saccadic eye movements | "An `abnormality of eye movement` (HP:0000496) characterized by impairment of fast (saccadic) eye movements." [HPO:probinson] |
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| HP:0000648 | Optic atrophy | |
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| HP:0000708 | Behavioural/Psychiatric Abnormality | |
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| HP:0000712 | Emotional lability | |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000726 | Dementia | |
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| HP:0000750 | Impaired language development | |
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| 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] |
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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:0001258 | Spastic paraplegia | |
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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: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] |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001268 | Mental deterioration | |
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| HP:0001272 | Cerebellar atrophy | |
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| HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001300 | Parkinsonism | |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| 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] |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001348 | Brisk reflexes | |
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| HP:0001761 | Pes cavus | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002063 | Rigidity | |
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| HP:0002064 | Spastic gait | |
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| 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] |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002172 | Postural instability | |
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| HP:0002180 | Neurodegeneration | |
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| HP:0002313 | Spastic paraparesis | |
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| HP:0002355 | Difficulty walking | |
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| HP:0002359 | Frequent falls | |
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| HP:0002362 | Shuffling gait | |
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| HP:0002366 | Lower motor neuron signs | |
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| HP:0002378 | Hand tremor | |
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| HP:0002453 | Abnormality of the globus pallidus | |
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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:0002607 | Bowel incontinence | |
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| HP:0002936 | Distal sensory impairment | |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003438 | Absent ankle reflexes | |
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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:0003676 | Progressive disorder | |
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| HP:0003677 | Slow progression | |
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| HP:0003691 | Scapular winging | |
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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:0003812 | Phenotypic variability | |
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| HP:0003828 | Variable expressivity | |
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| HP:0006380 | Knee flexion deformities | |
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| HP:0006466 | Contractures of the ankles | |
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| HP:0006801 | Hyperactive deep tendon reflexes | |
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| HP:0007002 | Sensory and motor axonal neuropathy | |
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| HP:0007010 | Poor fine motor coordination | |
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| HP:0007083 | Hyperreflexia in knees | |
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| HP:0012048 | Oromandibular dystonia | "A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech." [HPO:probinson] |
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| HP:0012785 | Flexion contracture of finger | "Chronic loss of joint motion in a finger due to structural changes in non-bony tissue." [HPO:probinson] |
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| HP:0045007 | Abnormality of the substantia nigra | |
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| HP:0100315 | Lewy bodies | |
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| HP:0100710 | Impulsivity | |
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