{
  "url": "https://dantelabs.com/nl/genes/fbxo38",
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      ],
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        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Charcot-Marie-Tooth-ziekte",
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          {
            "mondoId": "MONDO:0018894",
            "name": "Distale erfelijke motorische neuropathie",
            "genes": 22,
            "inheritance": null,
            "description": "Erfelijke neuropathieën die vooral de motorische zenuwen aantasten en zwakte en spierafbraak in de handen en voeten veroorzaken, waaronder SORD-gerelateerde neuropathie.",
            "management": null,
            "evidence": {
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                "Labcorp Genetics (formerly Invitae)"
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              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
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            },
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        ],
        "url": "https://dantelabs.com/nl/conditions/charcot-marie-tooth-disease-type-1"
      },
      {
        "slug": "spinal-muscular-atrophy",
        "name": "Spinale Spieratrofie",
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            "description": "Een groep aandoeningen die worden gekenmerkt door degeneratie van de voorhoorncellen in het ruggenmerg, wat leidt tot progressieve spierzwakte en spieratrofie.",
            "management": "Genetherapie (onasemnogene abeparvovec), antisense-oligonucleotidetherapie (nusinersen), oraal splicing-modificerend middel (risdiplam), ondersteunende zorg",
            "evidence": {
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              "inheritance": [
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            },
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            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/spinal-muscular-atrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
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        ],
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "decreased-achilles-reflex",
        "name": "Decreased Achilles reflex",
        "systems": [
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          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-achilles-reflex"
      },
      {
        "slug": "decreased-motor-nerve-conduction-velocity",
        "name": "Decreased motor nerve conduction velocity",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-motor-nerve-conduction-velocity"
      },
      {
        "slug": "difficulty-running",
        "name": "Difficulty running",
        "systems": [
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        ],
        "url": "https://dantelabs.com/traits/difficulty-running"
      },
      {
        "slug": "emg-chronic-denervation-signs",
        "name": "EMG: chronic denervation signs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/emg-chronic-denervation-signs"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "lower-limb-amyotrophy",
        "name": "Lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/lower-limb-amyotrophy"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "fasciculations",
        "name": "Muscle twitch",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/fasciculations"
      },
      {
        "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": "spinal-muscular-atrophy",
        "name": "Spinal muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/spinal-muscular-atrophy"
      },
      {
        "slug": "triceps-weakness",
        "name": "Triceps weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/triceps-weakness"
      },
      {
        "slug": "weakness-of-the-intrinsic-hand-muscles",
        "name": "Weakness of the intrinsic hand muscles",
        "systems": [
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          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/weakness-of-the-intrinsic-hand-muscles"
      }
    ],
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      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "name": "ATPase copper transporting alpha",
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        "url": "https://dantelabs.com/nl/genes/atp7a"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/bscl2"
      },
      {
        "slug": "dctn1",
        "symbol": "DCTN1",
        "name": "dynactin subunit 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/dctn1"
      },
      {
        "slug": "dnajb2",
        "symbol": "DNAJB2",
        "name": "DnaJ heat shock protein family (Hsp40) member B2",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/dnajb2"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/dync1h1"
      },
      {
        "slug": "emilin1",
        "symbol": "EMILIN1",
        "name": "elastin microfibril interfacer 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/emilin1"
      },
      {
        "slug": "gars1",
        "symbol": "GARS1",
        "name": "glycyl-tRNA synthetase 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/gars1"
      },
      {
        "slug": "hspb8",
        "symbol": "HSPB8",
        "name": "heat shock protein family B (small) member 8",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/hspb8"
      },
      {
        "slug": "ighmbp2",
        "symbol": "IGHMBP2",
        "name": "immunoglobulin mu DNA binding protein 2",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/ighmbp2"
      },
      {
        "slug": "plekhg5",
        "symbol": "PLEKHG5",
        "name": "pleckstrin homology and RhoGEF domain containing G5",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/plekhg5"
      },
      {
        "slug": "reep1",
        "symbol": "REEP1",
        "name": "receptor accessory protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/reep1"
      },
      {
        "slug": "sigmar1",
        "symbol": "SIGMAR1",
        "name": "sigma receptor chaperone 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/sigmar1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}