| 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: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:0000543 | Pale optic disks | |
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| HP:0000605 | Supranuclear gaze palsy | |
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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:0000648 | Optic atrophy | |
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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:0001272 | Cerebellar atrophy | |
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| HP:0001328 | Learning disability | |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001611 | Nasal speech | |
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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:0002061 | Lower limb spasticity | |
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| HP:0002064 | Spastic gait | |
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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:0002120 | Cerebral cortical atrophy | |
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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:0002314 | Degeneration of the lateral corticospinal tracts | |
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| HP:0002354 | Memory impairment | |
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| HP:0002395 | Lower limb hyperreflexia | |
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| HP:0002500 | Abnormality of the cerebral white matter | |
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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:0003200 | Ragged-red muscle fibers | "An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome (GT) staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged." [HPO:curators] |
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| HP:0003484 | Upper limb involvement may occur later | |
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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:0003581 | Onset in adulthood | |
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| HP:0006895 | Lower limb hypertonia | |
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| HP:0007018 | Attention deficit hyperactivity disorder | "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators] |
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| HP:0007164 | Slowed slurred speech | |
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| HP:0007340 | Lower limb muscle weakness | "Weakness of the muscles of the legs." [HPO:curators] |
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| HP:0008322 | Ultrastructural abnormalities in mitochondria on electron microscopy | |
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| HP:0012514 | Lower limb pain | "Pain in the leg with no clear focal etiology." [ORCID:0000-0001-5208-3432] |
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