| 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:0000514 | Slow saccades | |
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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: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:0001272 | Cerebellar atrophy | |
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| HP:0001284 | Areflexia | |
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| HP:0001310 | Dysmetria | |
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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:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002141 | Gait imbalance | |
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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:0002359 | Frequent falls | |
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| HP:0002839 | Sphincter disturbances (bladder) | |
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| HP:0002936 | Distal sensory impairment | |
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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:0003474 | Sensory impairment | |
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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: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:0006855 | Cerebellar vermis atrophy | |
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| HP:0007141 | Sensorimotor neuropathy | |
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