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        "url": "https://dantelabs.com/traits/epileptic-encephalopathy"
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        "name": "Febrile seizure (within the age range of 3 months to 6 years)",
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        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/febrile-seizure-within-the-age-range-of-3-months-to-6-years"
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      {
        "slug": "subcutaneous-nodule",
        "name": "Firm lump under the skin",
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/subcutaneous-nodule"
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        "name": "Gliosis",
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        "frequency": "obligate",
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      {
        "slug": "hyperglutaminemia",
        "name": "High plasma glutamine",
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperglutaminemia"
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        "slug": "hyperkeratosis",
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        "url": "https://dantelabs.com/traits/hyperkeratosis"
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      {
        "slug": "kyphoscoliosis",
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        "systems": [
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/kyphoscoliosis"
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        "url": "https://dantelabs.com/traits/hypotonia"
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        "url": "https://dantelabs.com/traits/axial-hypotonia"
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        "name": "Poor eye contact",
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        "url": "https://dantelabs.com/traits/reduced-eye-contact"
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      {
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        "url": "https://dantelabs.com/traits/respiratory-failure"
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        "url": "https://dantelabs.com/traits/self-injurious-behavior"
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      {
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        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/simplified-gyral-pattern"
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    ],
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        "slug": "aars1",
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        "name": "alanyl-tRNA synthetase 1",
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        "url": "https://dantelabs.com/sv/genes/aars1"
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      {
        "slug": "abat",
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        "name": "4-aminobutyrate aminotransferase",
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        "url": "https://dantelabs.com/sv/genes/abat"
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      {
        "slug": "actl6b",
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        "name": "actin like 6B",
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        "url": "https://dantelabs.com/sv/genes/actl6b"
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      {
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        "name": "ADAM metallopeptidase domain 22",
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        "url": "https://dantelabs.com/sv/genes/adam22"
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      {
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        "url": "https://dantelabs.com/sv/genes/aldh7a1"
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      {
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        "url": "https://dantelabs.com/sv/genes/alg13"
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      {
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        "name": "adaptor related protein complex 3 subunit beta 2",
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        "url": "https://dantelabs.com/sv/genes/ap3b2"
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      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
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        "url": "https://dantelabs.com/sv/genes/arhgef9"
      },
      {
        "slug": "arv1",
        "symbol": "ARV1",
        "name": "ARV1 fatty acid homeostasis modulator",
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        "url": "https://dantelabs.com/sv/genes/arv1"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "name": "aristaless related homeobox",
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        "url": "https://dantelabs.com/sv/genes/arx"
      },
      {
        "slug": "atp1a2",
        "symbol": "ATP1A2",
        "name": "ATPase Na+/K+ transporting subunit alpha 2",
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        "url": "https://dantelabs.com/sv/genes/atp1a2"
      },
      {
        "slug": "atp1a3",
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        "name": "ATPase Na+/K+ transporting subunit alpha 3",
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        "url": "https://dantelabs.com/sv/genes/atp1a3"
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    ],
    "sources": {
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      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
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    "locusKind": "proteinCoding"
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  "variants": {
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    "url": null,
    "items": []
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}