{
  "url": "https://dantelabs.com/traits/blepharospasm",
  "trait": {
    "bundleId": "2026.10.18-e609d43e",
    "release": "2026-09-01",
    "slug": "blepharospasm",
    "id": "HP:0000643",
    "name": "Eyelid spasm",
    "label": "Blepharospasm",
    "definition": "A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.",
    "synonyms": [
      "Eyelid twitching",
      "Involuntary closure of eyelid",
      "Spontaneous closure of eyelid"
    ],
    "systems": [
      {
        "slug": "abnormality-of-head-or-neck",
        "name": "Abnormality of head or neck",
        "url": "https://dantelabs.com/traits/abnormality-of-head-or-neck"
      },
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      }
    ],
    "broader": [
      {
        "slug": "craniofacial-dystonia",
        "name": "Abnormal craniofacial muscle tone",
        "url": "https://dantelabs.com/traits/craniofacial-dystonia"
      },
      {
        "slug": "abnormal-eyelid-physiology",
        "name": "Abnormal eyelid physiology",
        "url": "https://dantelabs.com/traits/abnormal-eyelid-physiology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "hgnc": "HGNC:20",
        "name": "alanyl-tRNA synthetase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aars1"
      },
      {
        "slug": "dcaf17",
        "symbol": "DCAF17",
        "hgnc": "HGNC:25784",
        "name": "DDB1 and CUL4 associated factor 17",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dcaf17"
      },
      {
        "slug": "ano3",
        "symbol": "ANO3",
        "hgnc": "HGNC:14004",
        "name": "anoctamin 3",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ano3"
      },
      {
        "slug": "cyp1b1",
        "symbol": "CYP1B1",
        "hgnc": "HGNC:2597",
        "name": "cytochrome P450 family 1 subfamily B member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyp1b1"
      },
      {
        "slug": "ddc",
        "symbol": "DDC",
        "hgnc": "HGNC:2719",
        "name": "dopa decarboxylase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddc"
      },
      {
        "slug": "fgfr2",
        "symbol": "FGFR2",
        "hgnc": "HGNC:3689",
        "name": "fibroblast growth factor receptor 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr2"
      },
      {
        "slug": "fgfr3",
        "symbol": "FGFR3",
        "hgnc": "HGNC:3690",
        "name": "fibroblast growth factor receptor 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr3"
      },
      {
        "slug": "hpca",
        "symbol": "HPCA",
        "hgnc": "HGNC:5144",
        "name": "hippocalcin",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hpca"
      },
      {
        "slug": "kctd17",
        "symbol": "KCTD17",
        "hgnc": "HGNC:25705",
        "name": "potassium channel tetramerization domain containing 17",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kctd17"
      },
      {
        "slug": "ltbp2",
        "symbol": "LTBP2",
        "hgnc": "HGNC:6715",
        "name": "latent transforming growth factor beta binding protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ltbp2"
      },
      {
        "slug": "mapt",
        "symbol": "MAPT",
        "hgnc": "HGNC:6893",
        "name": "microtubule associated protein tau",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mapt"
      },
      {
        "slug": "myoc",
        "symbol": "MYOC",
        "hgnc": "HGNC:7610",
        "name": "myocilin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myoc"
      },
      {
        "slug": "tacstd2",
        "symbol": "TACSTD2",
        "hgnc": "HGNC:11530",
        "name": "tumor associated calcium signal transducer 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tacstd2"
      },
      {
        "slug": "taf1",
        "symbol": "TAF1",
        "hgnc": "HGNC:11535",
        "name": "TATA-box binding protein associated factor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/taf1"
      },
      {
        "slug": "tbp",
        "symbol": "TBP",
        "hgnc": "HGNC:11588",
        "name": "TATA-box binding protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbp"
      },
      {
        "slug": "tek",
        "symbol": "TEK",
        "hgnc": "HGNC:11724",
        "name": "TEK receptor tyrosine kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tek"
      },
      {
        "slug": "twist1",
        "symbol": "TWIST1",
        "hgnc": "HGNC:12428",
        "name": "twist family bHLH transcription factor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/twist1"
      },
      {
        "slug": "atn1",
        "symbol": "ATN1",
        "hgnc": "HGNC:3033",
        "name": "atrophin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atn1"
      },
      {
        "slug": "atp13a2",
        "symbol": "ATP13A2",
        "hgnc": "HGNC:30213",
        "name": "ATPase cation transporting 13A2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp13a2"
      },
      {
        "slug": "cacna1a",
        "symbol": "CACNA1A",
        "hgnc": "HGNC:1388",
        "name": "calcium voltage-gated channel subunit alpha1 A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna1a"
      },
      {
        "slug": "chn1",
        "symbol": "CHN1",
        "hgnc": "HGNC:1943",
        "name": "chimerin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chn1"
      },
      {
        "slug": "cp",
        "symbol": "CP",
        "hgnc": "HGNC:2295",
        "name": "ceruloplasmin",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cp"
      },
      {
        "slug": "cplx1",
        "symbol": "CPLX1",
        "hgnc": "HGNC:2309",
        "name": "complexin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cplx1"
      },
      {
        "slug": "ftl",
        "symbol": "FTL",
        "hgnc": "HGNC:3999",
        "name": "ferritin light chain",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ftl"
      },
      {
        "slug": "hspg2",
        "symbol": "HSPG2",
        "hgnc": "HGNC:5273",
        "name": "heparan sulfate proteoglycan 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hspg2"
      },
      {
        "slug": "mafb",
        "symbol": "MAFB",
        "hgnc": "HGNC:6408",
        "name": "MAF bZIP transcription factor B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mafb"
      },
      {
        "slug": "mecr",
        "symbol": "MECR",
        "hgnc": "HGNC:19691",
        "name": "mitochondrial trans-2-enoyl-CoA reductase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mecr"
      },
      {
        "slug": "park7",
        "symbol": "PARK7",
        "hgnc": "HGNC:16369",
        "name": "Parkinsonism associated deglycase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/park7"
      },
      {
        "slug": "polr1b",
        "symbol": "POLR1B",
        "hgnc": "HGNC:20454",
        "name": "RNA polymerase I subunit B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polr1b"
      },
      {
        "slug": "polr1c",
        "symbol": "POLR1C",
        "hgnc": "HGNC:20194",
        "name": "RNA polymerase I and III subunit C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polr1c"
      },
      {
        "slug": "polr1d",
        "symbol": "POLR1D",
        "hgnc": "HGNC:20422",
        "name": "RNA polymerase I and III subunit D",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polr1d"
      },
      {
        "slug": "sall4",
        "symbol": "SALL4",
        "hgnc": "HGNC:15924",
        "name": "spalt like transcription factor 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sall4"
      },
      {
        "slug": "scn8a",
        "symbol": "SCN8A",
        "hgnc": "HGNC:10596",
        "name": "sodium voltage-gated channel alpha subunit 8",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn8a"
      },
      {
        "slug": "tbc1d24",
        "symbol": "TBC1D24",
        "hgnc": "HGNC:29203",
        "name": "TBC1 domain family member 24",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbc1d24"
      },
      {
        "slug": "tcof1",
        "symbol": "TCOF1",
        "hgnc": "HGNC:11654",
        "name": "treacle ribosome biogenesis factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tcof1"
      },
      {
        "slug": "thap1",
        "symbol": "THAP1",
        "hgnc": "HGNC:20856",
        "name": "THAP domain containing 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/thap1"
      },
      {
        "slug": "tubb4a",
        "symbol": "TUBB4A",
        "hgnc": "HGNC:20774",
        "name": "tubulin beta 4A class IVa",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tubb4a"
      },
      {
        "slug": "vps13a",
        "symbol": "VPS13A",
        "hgnc": "HGNC:1908",
        "name": "vacuolar protein sorting 13 homolog A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps13a"
      },
      {
        "slug": "drd5",
        "symbol": "DRD5",
        "hgnc": "HGNC:3026",
        "name": "dopamine receptor D5",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/drd5"
      },
      {
        "slug": "pank2",
        "symbol": "PANK2",
        "hgnc": "HGNC:15894",
        "name": "pantothenate kinase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pank2"
      },
      {
        "slug": "stard7",
        "symbol": "STARD7",
        "hgnc": "HGNC:18063",
        "name": "StAR related lipid transfer domain containing 7",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stard7"
      },
      {
        "slug": "tor1a",
        "symbol": "TOR1A",
        "hgnc": "HGNC:3098",
        "name": "torsin family 1 member A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tor1a"
      }
    ]
  }
}