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"autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/hu/conditions/hereditary-spastic-paraplegia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cerebrospinal-fluid-morphology", "name": "Abnormal cerebrospinal fluid morphology", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormal-cerebrospinal-fluid-morphology" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormal-lower-limb-motor-evoked-potentials", "name": "Abnormal lower-limb motor evoked potentials", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-lower-limb-motor-evoked-potentials" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "claw-toe-deformity", "name": "Claw toe deformity", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/claw-toe-deformity" }, { "slug": "degeneration-of-the-lateral-corticospinal-tracts", "name": "Degeneration of the lateral corticospinal tracts", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/degeneration-of-the-lateral-corticospinal-tracts" }, { "slug": "dementia", "name": "Dementia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dementia" }, { "slug": "distal-lower-limb-amyotrophy", "name": "Distal lower limb amyotrophy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/distal-lower-limb-amyotrophy" }, { "slug": "distal-lower-limb-muscle-weakness", "name": "Distal lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness" }, { "slug": "emg-abnormality", "name": "EMG abnormality", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/emg-abnormality" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/seizure" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "impaired-distal-vibration-sensation", "name": "Impaired distal vibration sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/impaired-distal-vibration-sensation" }, { "slug": "impaired-vibration-sensation-in-the-lower-limbs", "name": "Impaired vibration sensation in the lower limbs", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-vibration-sensation-in-the-lower-limbs" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "urinary-incontinence", "name": "Loss of bladder control", "systems": [ "abnormality-of-the-genitourinary-system", "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/urinary-incontinence" }, { "slug": "lower-limb-spasticity", "name": "Lower limb spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lower-limb-spasticity" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "progressive-spastic-paraparesis", "name": "Progressive spastic paraparesis", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-spastic-paraparesis" }, { "slug": "progressive-spastic-paraplegia", "name": "Progressive spastic paraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/progressive-spastic-paraplegia" }, { "slug": "prolonged-central-motor-conduction-time", "name": "Prolonged central motor conduction time", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prolonged-central-motor-conduction-time" }, { "slug": "proximal-muscle-weakness", "name": "Proximal neurogenic muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proximal-muscle-weakness" }, { "slug": "spastic-paraplegia", "name": "Spastic paraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spastic-paraplegia" }, { "slug": "spastic-gait", "name": "Spastic walk", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/spastic-gait" }, { "slug": "urinary-urgency", "name": "Urinary urgency", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/urinary-urgency" } ], "related": [ { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/abcd1" }, { "slug": "abhd16a", "symbol": "ABHD16A", "name": "abhydrolase domain containing 16A, phospholipase", "shared": 1, "url": "https://dantelabs.com/hu/genes/abhd16a" }, { "slug": "aldh18a1", "symbol": "ALDH18A1", "name": "aldehyde dehydrogenase 18 family member A1", "shared": 1, "url": "https://dantelabs.com/hu/genes/aldh18a1" }, { "slug": "amfr", "symbol": "AMFR", "name": "autocrine motility factor receptor", "shared": 1, "url": "https://dantelabs.com/hu/genes/amfr" }, { "slug": "ap4b1", "symbol": "AP4B1", "name": "adaptor related protein complex 4 subunit beta 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/ap4b1" }, { "slug": "ap4e1", "symbol": "AP4E1", "name": "adaptor related protein complex 4 subunit epsilon 1", "shared": 1, "url": 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"2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }