{
  "url": "https://dantelabs.com/traits/lower-limb-hypertonia",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "lower-limb-hypertonia",
    "id": "HP:0006895",
    "name": "Lower limb hypertonia",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-limbs",
        "name": "Abnormality of limbs",
        "url": "https://dantelabs.com/traits/abnormality-of-limbs"
      },
      {
        "slug": "abnormality-of-the-musculoskeletal-system",
        "name": "Abnormality of the musculoskeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system"
      }
    ],
    "broader": [
      {
        "slug": "limb-hypertonia",
        "name": "Increased muscle tone of arm or leg",
        "url": "https://dantelabs.com/traits/limb-hypertonia"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "cldn11",
        "symbol": "CLDN11",
        "hgnc": "HGNC:8514",
        "name": "claudin 11",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cldn11"
      },
      {
        "slug": "epg5",
        "symbol": "EPG5",
        "hgnc": "HGNC:29331",
        "name": "ectopic P-granules 5 autophagy tethering factor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/epg5"
      },
      {
        "slug": "inpp4a",
        "symbol": "INPP4A",
        "hgnc": "HGNC:6074",
        "name": "inositol polyphosphate-4-phosphatase type I A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/inpp4a"
      },
      {
        "slug": "kdm2b",
        "symbol": "KDM2B",
        "hgnc": "HGNC:13610",
        "name": "lysine demethylase 2B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm2b"
      },
      {
        "slug": "kidins220",
        "symbol": "KIDINS220",
        "hgnc": "HGNC:29508",
        "name": "kinase D interacting substrate 220",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kidins220"
      },
      {
        "slug": "kif5a",
        "symbol": "KIF5A",
        "hgnc": "HGNC:6323",
        "name": "kinesin family member 5A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif5a"
      },
      {
        "slug": "lbr",
        "symbol": "LBR",
        "hgnc": "HGNC:6518",
        "name": "lamin B receptor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lbr"
      },
      {
        "slug": "mal",
        "symbol": "MAL",
        "hgnc": "HGNC:6817",
        "name": "mal, T cell differentiation protein (MAL blood group)",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mal"
      },
      {
        "slug": "pdha1",
        "symbol": "PDHA1",
        "hgnc": "HGNC:8806",
        "name": "pyruvate dehydrogenase E1 subunit alpha 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdha1"
      },
      {
        "slug": "rbsn",
        "symbol": "RBSN",
        "hgnc": "HGNC:20759",
        "name": "rabenosyn, RAB effector",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rbsn"
      },
      {
        "slug": "rtn2",
        "symbol": "RTN2",
        "hgnc": "HGNC:10468",
        "name": "reticulon 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rtn2"
      },
      {
        "slug": "smg9",
        "symbol": "SMG9",
        "hgnc": "HGNC:25763",
        "name": "SMG9 nonsense mediated mRNA decay factor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smg9"
      },
      {
        "slug": "tmem63b",
        "symbol": "TMEM63B",
        "hgnc": "HGNC:17735",
        "name": "transmembrane protein 63B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem63b"
      },
      {
        "slug": "tuba4a",
        "symbol": "TUBA4A",
        "hgnc": "HGNC:12407",
        "name": "tubulin alpha 4a",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tuba4a"
      },
      {
        "slug": "vps37a",
        "symbol": "VPS37A",
        "hgnc": "HGNC:24928",
        "name": "VPS37A subunit of ESCRT-I",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps37a"
      },
      {
        "slug": "slc33a1",
        "symbol": "SLC33A1",
        "hgnc": "HGNC:95",
        "name": "solute carrier family 33 member 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc33a1"
      },
      {
        "slug": "spg7",
        "symbol": "SPG7",
        "hgnc": "HGNC:11237",
        "name": "SPG7 matrix AAA peptidase subunit, paraplegin",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/spg7"
      },
      {
        "slug": "afg3l2",
        "symbol": "AFG3L2",
        "hgnc": "HGNC:315",
        "name": "AFG3 like matrix AAA peptidase subunit 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/afg3l2"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "hgnc": "HGNC:9722",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aldh18a1"
      },
      {
        "slug": "asxl1",
        "symbol": "ASXL1",
        "hgnc": "HGNC:18318",
        "name": "ASXL transcriptional regulator 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/asxl1"
      },
      {
        "slug": "fa2h",
        "symbol": "FA2H",
        "hgnc": "HGNC:21197",
        "name": "fatty acid 2-hydroxylase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fa2h"
      },
      {
        "slug": "gdap2",
        "symbol": "GDAP2",
        "hgnc": "HGNC:18010",
        "name": "ganglioside induced differentiation associated protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gdap2"
      },
      {
        "slug": "kat6a",
        "symbol": "KAT6A",
        "hgnc": "HGNC:13013",
        "name": "lysine acetyltransferase 6A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kat6a"
      },
      {
        "slug": "mtpap",
        "symbol": "MTPAP",
        "hgnc": "HGNC:25532",
        "name": "mitochondrial poly(A) polymerase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mtpap"
      },
      {
        "slug": "rars1",
        "symbol": "RARS1",
        "hgnc": "HGNC:9870",
        "name": "arginyl-tRNA synthetase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rars1"
      },
      {
        "slug": "rnu5b-1",
        "symbol": "RNU5B-1",
        "hgnc": "HGNC:10212",
        "name": "RNA, U5B small nuclear 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu5b-1"
      },
      {
        "slug": "kdm1a",
        "symbol": "KDM1A",
        "hgnc": "HGNC:29079",
        "name": "lysine demethylase 1A",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kdm1a"
      },
      {
        "slug": "mtrr",
        "symbol": "MTRR",
        "hgnc": "HGNC:7473",
        "name": "5-methyltetrahydrofolate-homocysteine methyltransferase reductase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mtrr"
      },
      {
        "slug": "piga",
        "symbol": "PIGA",
        "hgnc": "HGNC:8957",
        "name": "phosphatidylinositol glycan anchor biosynthesis class A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/piga"
      },
      {
        "slug": "pnpt1",
        "symbol": "PNPT1",
        "hgnc": "HGNC:23166",
        "name": "polyribonucleotide nucleotidyltransferase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pnpt1"
      },
      {
        "slug": "rnu7-1",
        "symbol": "RNU7-1",
        "hgnc": "HGNC:34033",
        "name": "RNA, U7 small nuclear 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu7-1"
      },
      {
        "slug": "sdha",
        "symbol": "SDHA",
        "hgnc": "HGNC:10680",
        "name": "succinate dehydrogenase complex flavoprotein subunit A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sdha"
      },
      {
        "slug": "sdhaf1",
        "symbol": "SDHAF1",
        "hgnc": "HGNC:33867",
        "name": "succinate dehydrogenase complex assembly factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sdhaf1"
      },
      {
        "slug": "sdhb",
        "symbol": "SDHB",
        "hgnc": "HGNC:10681",
        "name": "succinate dehydrogenase complex iron sulfur subunit B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sdhb"
      },
      {
        "slug": "sdhd",
        "symbol": "SDHD",
        "hgnc": "HGNC:10683",
        "name": "succinate dehydrogenase complex subunit D",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sdhd"
      },
      {
        "slug": "sepsecs",
        "symbol": "SEPSECS",
        "hgnc": "HGNC:30605",
        "name": "Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sepsecs"
      },
      {
        "slug": "slc35c1",
        "symbol": "SLC35C1",
        "hgnc": "HGNC:20197",
        "name": "solute carrier family 35 member C1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc35c1"
      },
      {
        "slug": "slc39a14",
        "symbol": "SLC39A14",
        "hgnc": "HGNC:20858",
        "name": "solute carrier family 39 member 14",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc39a14"
      },
      {
        "slug": "tsen15",
        "symbol": "TSEN15",
        "hgnc": "HGNC:16791",
        "name": "tRNA splicing endonuclease subunit 15",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsen15"
      },
      {
        "slug": "tsen2",
        "symbol": "TSEN2",
        "hgnc": "HGNC:28422",
        "name": "tRNA splicing endonuclease subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsen2"
      },
      {
        "slug": "tsen34",
        "symbol": "TSEN34",
        "hgnc": "HGNC:15506",
        "name": "tRNA splicing endonuclease subunit 34",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsen34"
      },
      {
        "slug": "tsen54",
        "symbol": "TSEN54",
        "hgnc": "HGNC:27561",
        "name": "tRNA splicing endonuclease subunit 54",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsen54"
      },
      {
        "slug": "atl1",
        "symbol": "ATL1",
        "hgnc": "HGNC:11231",
        "name": "atlastin GTPase 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atl1"
      },
      {
        "slug": "sptan1",
        "symbol": "SPTAN1",
        "hgnc": "HGNC:11273",
        "name": "spectrin alpha, non-erythrocytic 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptan1"
      },
      {
        "slug": "atrx",
        "symbol": "ATRX",
        "hgnc": "HGNC:886",
        "name": "ATRX chromatin remodeler",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atrx"
      },
      {
        "slug": "kdm5c",
        "symbol": "KDM5C",
        "hgnc": "HGNC:11114",
        "name": "lysine demethylase 5C",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm5c"
      }
    ]
  }
}