{
  "url": "https://dantelabs.com/traits/limb-myoclonus",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "limb-myoclonus",
    "id": "HP:0045084",
    "name": "Limb myoclonus",
    "synonyms": [
      "Myoclonus of limbs"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      }
    ],
    "broader": [
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "url": "https://dantelabs.com/traits/myoclonus"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "scn8a",
        "symbol": "SCN8A",
        "hgnc": "HGNC:10596",
        "name": "sodium voltage-gated channel alpha subunit 8",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/scn8a"
      },
      {
        "slug": "sgce",
        "symbol": "SGCE",
        "hgnc": "HGNC:10808",
        "name": "sarcoglycan epsilon",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sgce"
      },
      {
        "slug": "drd2",
        "symbol": "DRD2",
        "hgnc": "HGNC:3023",
        "name": "dopamine receptor D2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/drd2"
      },
      {
        "slug": "kctd17",
        "symbol": "KCTD17",
        "hgnc": "HGNC:25705",
        "name": "potassium channel tetramerization domain containing 17",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kctd17"
      },
      {
        "slug": "tor1a",
        "symbol": "TOR1A",
        "hgnc": "HGNC:3098",
        "name": "torsin family 1 member A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tor1a"
      },
      {
        "slug": "cdkl5",
        "symbol": "CDKL5",
        "hgnc": "HGNC:11411",
        "name": "cyclin dependent kinase like 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdkl5"
      },
      {
        "slug": "gabbr2",
        "symbol": "GABBR2",
        "hgnc": "HGNC:4507",
        "name": "gamma-aminobutyric acid type B receptor subunit 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabbr2"
      },
      {
        "slug": "kcnq2",
        "symbol": "KCNQ2",
        "hgnc": "HGNC:6296",
        "name": "potassium voltage-gated channel subfamily Q member 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kcnq2"
      },
      {
        "slug": "kcnq3",
        "symbol": "KCNQ3",
        "hgnc": "HGNC:6297",
        "name": "potassium voltage-gated channel subfamily Q member 3",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kcnq3"
      },
      {
        "slug": "mapt",
        "symbol": "MAPT",
        "hgnc": "HGNC:6893",
        "name": "microtubule associated protein tau",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mapt"
      },
      {
        "slug": "mecp2",
        "symbol": "MECP2",
        "hgnc": "HGNC:6990",
        "name": "methyl-CpG binding protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mecp2"
      },
      {
        "slug": "ntng1",
        "symbol": "NTNG1",
        "hgnc": "HGNC:23319",
        "name": "netrin G1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ntng1"
      },
      {
        "slug": "smc1a",
        "symbol": "SMC1A",
        "hgnc": "HGNC:11111",
        "name": "structural maintenance of chromosomes 1A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smc1a"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "hgnc": "HGNC:61",
        "name": "ATP binding cassette subfamily D member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abcd1"
      },
      {
        "slug": "asah1",
        "symbol": "ASAH1",
        "hgnc": "HGNC:735",
        "name": "N-acylsphingosine amidohydrolase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/asah1"
      },
      {
        "slug": "kctd7",
        "symbol": "KCTD7",
        "hgnc": "HGNC:21957",
        "name": "potassium channel tetramerization domain containing 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kctd7"
      },
      {
        "slug": "prdx3",
        "symbol": "PRDX3",
        "hgnc": "HGNC:9354",
        "name": "peroxiredoxin 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prdx3"
      },
      {
        "slug": "prnp",
        "symbol": "PRNP",
        "hgnc": "HGNC:9449",
        "name": "prion protein (Kanno blood group)",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prnp"
      },
      {
        "slug": "prrt2",
        "symbol": "PRRT2",
        "hgnc": "HGNC:30500",
        "name": "proline rich transmembrane protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prrt2"
      },
      {
        "slug": "scn2a",
        "symbol": "SCN2A",
        "hgnc": "HGNC:10588",
        "name": "sodium voltage-gated channel alpha subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn2a"
      },
      {
        "slug": "cacna1h",
        "symbol": "CACNA1H",
        "hgnc": "HGNC:1395",
        "name": "calcium voltage-gated channel subunit alpha1 H",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna1h"
      },
      {
        "slug": "gabra1",
        "symbol": "GABRA1",
        "hgnc": "HGNC:4075",
        "name": "gamma-aminobutyric acid type A receptor subunit alpha1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabra1"
      },
      {
        "slug": "gabrb3",
        "symbol": "GABRB3",
        "hgnc": "HGNC:4083",
        "name": "gamma-aminobutyric acid type A receptor subunit beta3",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabrb3"
      },
      {
        "slug": "gabrg2",
        "symbol": "GABRG2",
        "hgnc": "HGNC:4087",
        "name": "gamma-aminobutyric acid type A receptor subunit gamma2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabrg2"
      },
      {
        "slug": "jrk",
        "symbol": "JRK",
        "hgnc": "HGNC:6199",
        "name": "Jrk helix-turn-helix protein",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jrk"
      },
      {
        "slug": "nop56",
        "symbol": "NOP56",
        "hgnc": "HGNC:15911",
        "name": "NOP56 ribonucleoprotein",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nop56"
      }
    ]
  }
}