{
  "url": "https://dantelabs.com/traits/congenital-contracture",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "congenital-contracture",
    "id": "HP:0002803",
    "name": "Congenital contracture",
    "definition": "One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.",
    "synonyms": [
      "congenital contractures",
      "Congenital joint contractures"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-musculoskeletal-system",
        "name": "Abnormality of the musculoskeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system"
      }
    ],
    "broader": [
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "url": "https://dantelabs.com/traits/flexion-contracture"
      }
    ],
    "narrower": [
      {
        "slug": "arthrogryposis-multiplex-congenita",
        "name": "Arthrogryposis multiplex congenita",
        "genes": 126,
        "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita"
      },
      {
        "slug": "distal-arthrogryposis",
        "name": "Distal arthrogryposis",
        "genes": 29,
        "url": "https://dantelabs.com/traits/distal-arthrogryposis"
      },
      {
        "slug": "congenital-finger-flexion-contractures",
        "name": "Congenital finger flexion contractures",
        "genes": 12,
        "url": "https://dantelabs.com/traits/congenital-finger-flexion-contractures"
      },
      {
        "slug": "congenital-foot-contractures",
        "name": "Congenital foot contractures",
        "genes": 2,
        "url": "https://dantelabs.com/traits/congenital-foot-contractures"
      },
      {
        "slug": "congenital-foot-contraction-deformities",
        "name": "Congenital foot contraction deformities",
        "genes": 1,
        "url": "https://dantelabs.com/traits/congenital-foot-contraction-deformities"
      }
    ],
    "genes": [
      {
        "slug": "gfm2",
        "symbol": "GFM2",
        "hgnc": "HGNC:29682",
        "name": "GTP dependent ribosome recycling factor mitochondrial 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gfm2"
      },
      {
        "slug": "musk",
        "symbol": "MUSK",
        "hgnc": "HGNC:7525",
        "name": "muscle associated receptor tyrosine kinase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/musk"
      },
      {
        "slug": "zbtb42",
        "symbol": "ZBTB42",
        "hgnc": "HGNC:32550",
        "name": "zinc finger and BTB domain containing 42",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zbtb42"
      },
      {
        "slug": "chst14",
        "symbol": "CHST14",
        "hgnc": "HGNC:24464",
        "name": "carbohydrate sulfotransferase 14",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chst14"
      },
      {
        "slug": "dse",
        "symbol": "DSE",
        "hgnc": "HGNC:21144",
        "name": "dermatan sulfate epimerase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dse"
      },
      {
        "slug": "fbn2",
        "symbol": "FBN2",
        "hgnc": "HGNC:3604",
        "name": "fibrillin 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbn2"
      },
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "hgnc": "HGNC:28287",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg14"
      },
      {
        "slug": "asxl1",
        "symbol": "ASXL1",
        "hgnc": "HGNC:18318",
        "name": "ASXL transcriptional regulator 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/asxl1"
      },
      {
        "slug": "cacna1e",
        "symbol": "CACNA1E",
        "hgnc": "HGNC:1392",
        "name": "calcium voltage-gated channel subunit alpha1 E",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna1e"
      },
      {
        "slug": "ryr3",
        "symbol": "RYR3",
        "hgnc": "HGNC:10485",
        "name": "ryanodine receptor 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ryr3"
      },
      {
        "slug": "stac3",
        "symbol": "STAC3",
        "hgnc": "HGNC:28423",
        "name": "SH3 and cysteine rich domain 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stac3"
      },
      {
        "slug": "tsen54",
        "symbol": "TSEN54",
        "hgnc": "HGNC:27561",
        "name": "tRNA splicing endonuclease subunit 54",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsen54"
      },
      {
        "slug": "auts2",
        "symbol": "AUTS2",
        "hgnc": "HGNC:14262",
        "name": "activator of transcription and developmental regulator AUTS2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/auts2"
      },
      {
        "slug": "col12a1",
        "symbol": "COL12A1",
        "hgnc": "HGNC:2188",
        "name": "collagen type XII alpha 1 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col12a1"
      },
      {
        "slug": "kif26a",
        "symbol": "KIF26A",
        "hgnc": "HGNC:20226",
        "name": "kinesin family member 26A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif26a"
      },
      {
        "slug": "lmod3",
        "symbol": "LMOD3",
        "hgnc": "HGNC:6649",
        "name": "leiomodin 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmod3"
      },
      {
        "slug": "pax7",
        "symbol": "PAX7",
        "hgnc": "HGNC:8621",
        "name": "paired box 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pax7"
      },
      {
        "slug": "tbx4",
        "symbol": "TBX4",
        "hgnc": "HGNC:11603",
        "name": "T-box transcription factor 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbx4"
      },
      {
        "slug": "adgrg6",
        "symbol": "ADGRG6",
        "hgnc": "HGNC:13841",
        "name": "adhesion G protein-coupled receptor G6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adgrg6"
      },
      {
        "slug": "dnm2",
        "symbol": "DNM2",
        "hgnc": "HGNC:2974",
        "name": "dynamin 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnm2"
      },
      {
        "slug": "dpm2",
        "symbol": "DPM2",
        "hgnc": "HGNC:3006",
        "name": "dolichyl-phosphate mannosyltransferase subunit 2, regulatory",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dpm2"
      },
      {
        "slug": "ergic1",
        "symbol": "ERGIC1",
        "hgnc": "HGNC:29205",
        "name": "endoplasmic reticulum-golgi intermediate compartment 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ergic1"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "hgnc": "HGNC:17997",
        "name": "fukutin related protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fkrp"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "hgnc": "HGNC:3622",
        "name": "fukutin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fktn"
      },
      {
        "slug": "large1",
        "symbol": "LARGE1",
        "hgnc": "HGNC:6511",
        "name": "LARGE xylosyl- and glucuronyltransferase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/large1"
      },
      {
        "slug": "myh2",
        "symbol": "MYH2",
        "hgnc": "HGNC:7572",
        "name": "myosin heavy chain 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myh2"
      },
      {
        "slug": "nalcn",
        "symbol": "NALCN",
        "hgnc": "HGNC:19082",
        "name": "sodium leak channel, non-selective",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nalcn"
      },
      {
        "slug": "neb",
        "symbol": "NEB",
        "hgnc": "HGNC:7720",
        "name": "nebulin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/neb"
      },
      {
        "slug": "piezo2",
        "symbol": "PIEZO2",
        "hgnc": "HGNC:26270",
        "name": "piezo type mechanosensitive ion channel component 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/piezo2"
      },
      {
        "slug": "pomt1",
        "symbol": "POMT1",
        "hgnc": "HGNC:9202",
        "name": "protein O-mannosyltransferase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomt1"
      },
      {
        "slug": "pomt2",
        "symbol": "POMT2",
        "hgnc": "HGNC:19743",
        "name": "protein O-mannosyltransferase 2",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pomt2"
      },
      {
        "slug": "vrk1",
        "symbol": "VRK1",
        "hgnc": "HGNC:12718",
        "name": "VRK serine/threonine kinase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vrk1"
      }
    ]
  }
}