| 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] |
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| 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:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000524 | Conjunctival telangiectasia | "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva." [HPO:curators] |
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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:0000640 | Gaze-evoked nystagmus | "Nystagmus made apparent by looking to the right or to the left." [HPO:curators] |
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| HP:0000657 | Oculomotor apraxia | |
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| HP:0000764 | Axonal degeneration | |
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| HP:0001152 | Saccadic smooth pursuit | |
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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: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:0001265 | Hyporeflexia | |
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| HP:0001266 | Choreoathetosis | |
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| HP:0001271 | Polyneuropathy | "A generalized disorder of peripheral nerves." [HPO:curators] |
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| HP:0001272 | Cerebellar atrophy | |
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| HP:0001284 | Areflexia | |
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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:0001761 | Pes cavus | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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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:0002070 | Limb ataxia | |
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| HP:0002072 | Chorea | "Chorea (Greek for dance ) refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion." [HPO:curators] |
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| HP:0002127 | Upper motor neuron abnormality | |
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| HP:0002141 | Gait imbalance | |
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| HP:0002169 | Clonus | |
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| HP:0002174 | Postural tremor | "A type of tremors that is triggered by holding a limb in a fixed position." [HPO:curators] |
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| HP:0002346 | Head tremor | |
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| HP:0002355 | Difficulty walking | |
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| HP:0002366 | Lower motor neuron signs | |
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| HP:0002398 | Degeneration of anterior horn cells | |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002839 | Sphincter disturbances (bladder) | |
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| HP:0003073 | Hypoalbuminemia | "Reduction in the concentration of albumin in the blood." [HPO:curators] |
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| HP:0003124 | Hypercholesterolemia | |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003405 | Diffuse axonal swelling | |
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| HP:0003431 | Decreased motor nerve conduction velocity (NCV) | |
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| HP:0003474 | Sensory impairment | |
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| HP:0003477 | Axonal neuropathy | |
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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:0003693 | Distal amyotrophy | "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
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| HP:0003828 | Variable expressivity | |
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| HP:0006254 | Elevated alpha-fetoprotein | "An elevation of alpha-feto protein, which is produced by the fetal liver and the yolk sac and may be increased in the serum of pregnant women with a fetus with some types of developmental anomaly such as open neural tube defects and omphalaocele." [HPO:curators] |
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| HP:0006825 | Pallor of dorsal columns of the spinal cord | |
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| HP:0006855 | Cerebellar vermis atrophy | |
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| HP:0006879 | Pontocerebellar atrophy | |
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| HP:0006886 | Decreased distal vibration sense | "A decrease in the ability to perceive vibration in the distal portions of the limbs." [HPO:curators] |
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| HP:0006937 | Distal sensory loss of tactile and vibratory senses | |
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| HP:0007141 | Sensorimotor neuropathy | |
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| HP:0007240 | Progressive gait ataxia | |
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| HP:0007256 | Mild pyramidal signs | |
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| HP:0007354 | Amyotrophic lateral sclerosis | |
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| HP:0010702 | Increased immunoglobulin level | "An abnormally increased level of immunoglobulin in blood." [HPO:probinson] |
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| HP:0010831 | Impaired proprioception | "A loss or impairment of the sensation of the relative position of parts of the body and joint position." [HPO:probinson] |
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| HP:0040078 | Axonal degeneration | |
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