{
  "url": "https://dantelabs.com/traits/appendicular-hypotonia",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "appendicular-hypotonia",
    "id": "HP:0012389",
    "name": "Appendicular hypotonia",
    "definition": "Muscular hypotonia of one or more limbs.",
    "synonyms": [],
    "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": "hypotonia",
        "name": "Low muscle tone",
        "url": "https://dantelabs.com/traits/hypotonia"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "cacna1c",
        "symbol": "CACNA1C",
        "hgnc": "HGNC:1390",
        "name": "calcium voltage-gated channel subunit alpha1 C",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna1c"
      },
      {
        "slug": "cwf19l1",
        "symbol": "CWF19L1",
        "hgnc": "HGNC:25613",
        "name": "CWF19 like cell cycle control factor 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cwf19l1"
      },
      {
        "slug": "fam177a1",
        "symbol": "FAM177A1",
        "hgnc": "HGNC:19829",
        "name": "family with sequence similarity 177 member A1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fam177a1"
      },
      {
        "slug": "gosr2",
        "symbol": "GOSR2",
        "hgnc": "HGNC:4431",
        "name": "golgi SNAP receptor complex member 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gosr2"
      },
      {
        "slug": "lgi1",
        "symbol": "LGI1",
        "hgnc": "HGNC:6572",
        "name": "leucine rich glioma inactivated 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lgi1"
      },
      {
        "slug": "lrrc7",
        "symbol": "LRRC7",
        "hgnc": "HGNC:18531",
        "name": "leucine rich repeat containing 7",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrrc7"
      },
      {
        "slug": "mpv17",
        "symbol": "MPV17",
        "hgnc": "HGNC:7224",
        "name": "mitochondrial inner membrane protein MPV17",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mpv17"
      },
      {
        "slug": "napb",
        "symbol": "NAPB",
        "hgnc": "HGNC:15751",
        "name": "NSF attachment protein beta",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/napb"
      },
      {
        "slug": "nrros",
        "symbol": "NRROS",
        "hgnc": "HGNC:24613",
        "name": "negative regulator of reactive oxygen species",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nrros"
      },
      {
        "slug": "pex3",
        "symbol": "PEX3",
        "hgnc": "HGNC:8858",
        "name": "peroxisomal biogenesis factor 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex3"
      },
      {
        "slug": "pum1",
        "symbol": "PUM1",
        "hgnc": "HGNC:14957",
        "name": "pumilio RNA binding family member 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pum1"
      },
      {
        "slug": "unc80",
        "symbol": "UNC80",
        "hgnc": "HGNC:26582",
        "name": "unc-80 subunit of NALCN channel complex",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/unc80"
      },
      {
        "slug": "ascc3",
        "symbol": "ASCC3",
        "hgnc": "HGNC:18697",
        "name": "activating signal cointegrator 1 complex subunit 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ascc3"
      },
      {
        "slug": "borcs8",
        "symbol": "BORCS8",
        "hgnc": "HGNC:37247",
        "name": "BLOC-1 related complex subunit 8",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/borcs8"
      },
      {
        "slug": "cog3",
        "symbol": "COG3",
        "hgnc": "HGNC:18619",
        "name": "component of oligomeric golgi complex 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cog3"
      },
      {
        "slug": "exosc9",
        "symbol": "EXOSC9",
        "hgnc": "HGNC:9137",
        "name": "exosome component 9",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/exosc9"
      },
      {
        "slug": "fbxo28",
        "symbol": "FBXO28",
        "hgnc": "HGNC:29046",
        "name": "F-box protein 28",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbxo28"
      },
      {
        "slug": "fnip1",
        "symbol": "FNIP1",
        "hgnc": "HGNC:29418",
        "name": "folliculin interacting protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fnip1"
      },
      {
        "slug": "gemin5",
        "symbol": "GEMIN5",
        "hgnc": "HGNC:20043",
        "name": "gem nuclear organelle associated protein 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gemin5"
      },
      {
        "slug": "pogz",
        "symbol": "POGZ",
        "hgnc": "HGNC:18801",
        "name": "pogo transposable element derived with ZNF domain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pogz"
      },
      {
        "slug": "prps1",
        "symbol": "PRPS1",
        "hgnc": "HGNC:9462",
        "name": "phosphoribosyl pyrophosphate synthetase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prps1"
      },
      {
        "slug": "slc4a10",
        "symbol": "SLC4A10",
        "hgnc": "HGNC:13811",
        "name": "solute carrier family 4 member 10",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc4a10"
      },
      {
        "slug": "dhx9",
        "symbol": "DHX9",
        "hgnc": "HGNC:2750",
        "name": "DExH-box helicase 9",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhx9"
      },
      {
        "slug": "gnptab",
        "symbol": "GNPTAB",
        "hgnc": "HGNC:29670",
        "name": "N-acetylglucosamine-1-phosphate transferase subunits alpha and beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnptab"
      },
      {
        "slug": "lgi3",
        "symbol": "LGI3",
        "hgnc": "HGNC:18711",
        "name": "leucine rich repeat LGI family member 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lgi3"
      },
      {
        "slug": "pgbd5",
        "symbol": "PGBD5",
        "hgnc": "HGNC:19405",
        "name": "piggyBac transposable element derived 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pgbd5"
      },
      {
        "slug": "tefm",
        "symbol": "TEFM",
        "hgnc": "HGNC:26223",
        "name": "transcription elongation factor, mitochondrial",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tefm"
      }
    ]
  }
}