{
  "url": "https://dantelabs.com/traits/generalized-dystonia",
  "trait": {
    "bundleId": "2026.10.21-777c9289",
    "release": "2026-09-01",
    "slug": "generalized-dystonia",
    "id": "HP:0007325",
    "name": "Generalized dystonia",
    "definition": "A type of dystonia that affects all or most of the body.",
    "synonyms": [
      "Generalised dystonia"
    ],
    "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": "dystonia",
        "name": "Dystonia",
        "url": "https://dantelabs.com/traits/dystonia"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "actb",
        "symbol": "ACTB",
        "hgnc": "HGNC:132",
        "name": "actin beta",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/actb"
      },
      {
        "slug": "atp5f1b",
        "symbol": "ATP5F1B",
        "hgnc": "HGNC:830",
        "name": "ATP synthase F1 subunit beta",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp5f1b"
      },
      {
        "slug": "mccc1",
        "symbol": "MCCC1",
        "hgnc": "HGNC:6936",
        "name": "methylcrotonyl-CoA carboxylase subunit 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mccc1"
      },
      {
        "slug": "mrps25",
        "symbol": "MRPS25",
        "hgnc": "HGNC:14511",
        "name": "mitochondrial ribosomal protein S25",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mrps25"
      },
      {
        "slug": "nav3",
        "symbol": "NAV3",
        "hgnc": "HGNC:15998",
        "name": "neuron navigator 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nav3"
      },
      {
        "slug": "ndufaf6",
        "symbol": "NDUFAF6",
        "hgnc": "HGNC:28625",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 6",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufaf6"
      },
      {
        "slug": "plp1",
        "symbol": "PLP1",
        "hgnc": "HGNC:9086",
        "name": "proteolipid protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plp1"
      },
      {
        "slug": "prkra",
        "symbol": "PRKRA",
        "hgnc": "HGNC:9438",
        "name": "protein activator of interferon induced protein kinase EIF2AK2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkra"
      },
      {
        "slug": "tnr",
        "symbol": "TNR",
        "hgnc": "HGNC:11953",
        "name": "tenascin R",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnr"
      },
      {
        "slug": "tor1a",
        "symbol": "TOR1A",
        "hgnc": "HGNC:3098",
        "name": "torsin family 1 member A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tor1a"
      },
      {
        "slug": "tspoap1",
        "symbol": "TSPOAP1",
        "hgnc": "HGNC:16831",
        "name": "TSPO associated protein 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tspoap1"
      },
      {
        "slug": "vps41",
        "symbol": "VPS41",
        "hgnc": "HGNC:12713",
        "name": "VPS41 subunit of HOPS complex",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps41"
      },
      {
        "slug": "kmt2b",
        "symbol": "KMT2B",
        "hgnc": "HGNC:15840",
        "name": "lysine methyltransferase 2B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kmt2b"
      },
      {
        "slug": "thap1",
        "symbol": "THAP1",
        "hgnc": "HGNC:20856",
        "name": "THAP domain containing 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/thap1"
      },
      {
        "slug": "tubb4a",
        "symbol": "TUBB4A",
        "hgnc": "HGNC:20774",
        "name": "tubulin beta 4A class IVa",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tubb4a"
      },
      {
        "slug": "als2",
        "symbol": "ALS2",
        "hgnc": "HGNC:443",
        "name": "alsin Rho guanine nucleotide exchange factor ALS2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/als2"
      },
      {
        "slug": "aopep",
        "symbol": "AOPEP",
        "hgnc": "HGNC:1361",
        "name": "aminopeptidase O (putative)",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aopep"
      },
      {
        "slug": "atp5f1a",
        "symbol": "ATP5F1A",
        "hgnc": "HGNC:823",
        "name": "ATP synthase F1 subunit alpha",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp5f1a"
      },
      {
        "slug": "c19orf12",
        "symbol": "C19orf12",
        "hgnc": "HGNC:25443",
        "name": "chromosome 19 open reading frame 12",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/c19orf12"
      },
      {
        "slug": "chd8",
        "symbol": "CHD8",
        "hgnc": "HGNC:20153",
        "name": "chromodomain helicase DNA binding protein 8",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chd8"
      },
      {
        "slug": "coq4",
        "symbol": "COQ4",
        "hgnc": "HGNC:19693",
        "name": "coenzyme Q4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/coq4"
      },
      {
        "slug": "dlat",
        "symbol": "DLAT",
        "hgnc": "HGNC:2896",
        "name": "dihydrolipoamide S-acetyltransferase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dlat"
      },
      {
        "slug": "fa2h",
        "symbol": "FA2H",
        "hgnc": "HGNC:21197",
        "name": "fatty acid 2-hydroxylase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fa2h"
      },
      {
        "slug": "ndufa2",
        "symbol": "NDUFA2",
        "hgnc": "HGNC:7685",
        "name": "NADH:ubiquinone oxidoreductase subunit A2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufa2"
      },
      {
        "slug": "nup54",
        "symbol": "NUP54",
        "hgnc": "HGNC:17359",
        "name": "nucleoporin 54",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nup54"
      },
      {
        "slug": "pank2",
        "symbol": "PANK2",
        "hgnc": "HGNC:15894",
        "name": "pantothenate kinase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pank2"
      },
      {
        "slug": "slc39a14",
        "symbol": "SLC39A14",
        "hgnc": "HGNC:20858",
        "name": "solute carrier family 39 member 14",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc39a14"
      },
      {
        "slug": "timm8a",
        "symbol": "TIMM8A",
        "hgnc": "HGNC:11817",
        "name": "translocase of inner mitochondrial membrane 8A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/timm8a"
      },
      {
        "slug": "gch1",
        "symbol": "GCH1",
        "hgnc": "HGNC:4193",
        "name": "GTP cyclohydrolase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gch1"
      },
      {
        "slug": "hpca",
        "symbol": "HPCA",
        "hgnc": "HGNC:5144",
        "name": "hippocalcin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hpca"
      },
      {
        "slug": "impdh2",
        "symbol": "IMPDH2",
        "hgnc": "HGNC:6053",
        "name": "inosine monophosphate dehydrogenase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/impdh2"
      },
      {
        "slug": "jam2",
        "symbol": "JAM2",
        "hgnc": "HGNC:14686",
        "name": "junctional adhesion molecule 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jam2"
      },
      {
        "slug": "lrpprc",
        "symbol": "LRPPRC",
        "hgnc": "HGNC:15714",
        "name": "leucine rich pentatricopeptide repeat containing",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrpprc"
      },
      {
        "slug": "naxd",
        "symbol": "NAXD",
        "hgnc": "HGNC:25576",
        "name": "NAD(P)HX dehydratase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/naxd"
      },
      {
        "slug": "nr4a2",
        "symbol": "NR4A2",
        "hgnc": "HGNC:7981",
        "name": "nuclear receptor subfamily 4 group A member 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nr4a2"
      },
      {
        "slug": "th",
        "symbol": "TH",
        "hgnc": "HGNC:11782",
        "name": "tyrosine hydroxylase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/th"
      },
      {
        "slug": "ufc1",
        "symbol": "UFC1",
        "hgnc": "HGNC:26941",
        "name": "ubiquitin-fold modifier conjugating enzyme 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ufc1"
      },
      {
        "slug": "suox",
        "symbol": "SUOX",
        "hgnc": "HGNC:11460",
        "name": "sulfite oxidase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/suox"
      }
    ]
  }
}