{
  "url": "https://dantelabs.com/traits/spastic-diplegia",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "spastic-diplegia",
    "id": "HP:0001264",
    "name": "Spastic diplegia",
    "definition": "Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.",
    "synonyms": [
      "Spastic diparesis",
      "Spastic diplegic"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-musculoskeletal-system",
        "name": "Abnormality of the musculoskeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system"
      },
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      }
    ],
    "broader": [
      {
        "slug": "appendicular-spasticity",
        "name": "Appendicular spasticity",
        "url": "https://dantelabs.com/traits/appendicular-spasticity"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "cfap20",
        "symbol": "CFAP20",
        "hgnc": "HGNC:29523",
        "name": "cilia and flagella associated protein 20",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfap20"
      },
      {
        "slug": "elp2",
        "symbol": "ELP2",
        "hgnc": "HGNC:18248",
        "name": "elongator acetyltransferase complex subunit 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/elp2"
      },
      {
        "slug": "lrrc7",
        "symbol": "LRRC7",
        "hgnc": "HGNC:18531",
        "name": "leucine rich repeat containing 7",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrrc7"
      },
      {
        "slug": "msl2",
        "symbol": "MSL2",
        "hgnc": "HGNC:25544",
        "name": "MSL complex subunit 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/msl2"
      },
      {
        "slug": "rab3gap1",
        "symbol": "RAB3GAP1",
        "hgnc": "HGNC:17063",
        "name": "RAB3 GTPase activating protein catalytic subunit 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rab3gap1"
      },
      {
        "slug": "rab3gap2",
        "symbol": "RAB3GAP2",
        "hgnc": "HGNC:17168",
        "name": "RAB3 GTPase activating non-catalytic protein subunit 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rab3gap2"
      },
      {
        "slug": "unc13a",
        "symbol": "UNC13A",
        "hgnc": "HGNC:23150",
        "name": "unc-13 homolog A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/unc13a"
      },
      {
        "slug": "aldh3a2",
        "symbol": "ALDH3A2",
        "hgnc": "HGNC:403",
        "name": "aldehyde dehydrogenase 3 family member A2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aldh3a2"
      },
      {
        "slug": "ap1s2",
        "symbol": "AP1S2",
        "hgnc": "HGNC:560",
        "name": "adaptor related protein complex 1 subunit sigma 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ap1s2"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "hgnc": "HGNC:20",
        "name": "alanyl-tRNA synthetase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aars1"
      },
      {
        "slug": "als2",
        "symbol": "ALS2",
        "hgnc": "HGNC:443",
        "name": "alsin Rho guanine nucleotide exchange factor ALS2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/als2"
      },
      {
        "slug": "atp13a2",
        "symbol": "ATP13A2",
        "hgnc": "HGNC:30213",
        "name": "ATPase cation transporting 13A2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp13a2"
      },
      {
        "slug": "dars1",
        "symbol": "DARS1",
        "hgnc": "HGNC:2678",
        "name": "aspartyl-tRNA synthetase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dars1"
      },
      {
        "slug": "erlin1",
        "symbol": "ERLIN1",
        "hgnc": "HGNC:16947",
        "name": "ER lipid raft associated 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/erlin1"
      },
      {
        "slug": "fus",
        "symbol": "FUS",
        "hgnc": "HGNC:4010",
        "name": "FUS RNA binding protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fus"
      },
      {
        "slug": "galc",
        "symbol": "GALC",
        "hgnc": "HGNC:4115",
        "name": "galactosylceramidase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/galc"
      },
      {
        "slug": "glrx5",
        "symbol": "GLRX5",
        "hgnc": "HGNC:20134",
        "name": "glutaredoxin 5",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/glrx5"
      },
      {
        "slug": "gne",
        "symbol": "GNE",
        "hgnc": "HGNC:23657",
        "name": "glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gne"
      },
      {
        "slug": "nde1",
        "symbol": "NDE1",
        "hgnc": "HGNC:17619",
        "name": "nudE neurodevelopment protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nde1"
      },
      {
        "slug": "pdhx",
        "symbol": "PDHX",
        "hgnc": "HGNC:21350",
        "name": "pyruvate dehydrogenase complex component X",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdhx"
      },
      {
        "slug": "pqbp1",
        "symbol": "PQBP1",
        "hgnc": "HGNC:9330",
        "name": "polyglutamine binding protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pqbp1"
      },
      {
        "slug": "sigmar1",
        "symbol": "SIGMAR1",
        "hgnc": "HGNC:8157",
        "name": "sigma receptor chaperone 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sigmar1"
      },
      {
        "slug": "slc25a15",
        "symbol": "SLC25A15",
        "hgnc": "HGNC:10985",
        "name": "solute carrier family 25 member 15",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc25a15"
      },
      {
        "slug": "sord",
        "symbol": "SORD",
        "hgnc": "HGNC:11184",
        "name": "sorbitol dehydrogenase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sord"
      },
      {
        "slug": "spg11",
        "symbol": "SPG11",
        "hgnc": "HGNC:11226",
        "name": "SPG11 vesicle trafficking associated, spatacsin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spg11"
      },
      {
        "slug": "sptlc1",
        "symbol": "SPTLC1",
        "hgnc": "HGNC:11277",
        "name": "serine palmitoyltransferase long chain base subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptlc1"
      },
      {
        "slug": "sptlc2",
        "symbol": "SPTLC2",
        "hgnc": "HGNC:11278",
        "name": "serine palmitoyltransferase long chain base subunit 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptlc2"
      },
      {
        "slug": "syne1",
        "symbol": "SYNE1",
        "hgnc": "HGNC:17089",
        "name": "spectrin repeat containing nuclear envelope protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/syne1"
      },
      {
        "slug": "taf1",
        "symbol": "TAF1",
        "hgnc": "HGNC:11535",
        "name": "TATA-box binding protein associated factor 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/taf1"
      },
      {
        "slug": "tardbp",
        "symbol": "TARDBP",
        "hgnc": "HGNC:11571",
        "name": "TAR DNA binding protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tardbp"
      },
      {
        "slug": "trmt2b",
        "symbol": "TRMT2B",
        "hgnc": "HGNC:25748",
        "name": "tRNA methyltransferase 2B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trmt2b"
      },
      {
        "slug": "ubqln2",
        "symbol": "UBQLN2",
        "hgnc": "HGNC:12509",
        "name": "ubiquilin 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ubqln2"
      },
      {
        "slug": "aass",
        "symbol": "AASS",
        "hgnc": "HGNC:17366",
        "name": "aminoadipate-semialdehyde synthase",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/aass"
      },
      {
        "slug": "ctnnb1",
        "symbol": "CTNNB1",
        "hgnc": "HGNC:2514",
        "name": "catenin beta 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctnnb1"
      },
      {
        "slug": "flna",
        "symbol": "FLNA",
        "hgnc": "HGNC:3754",
        "name": "filamin A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flna"
      },
      {
        "slug": "fsd1l",
        "symbol": "FSD1L",
        "hgnc": "HGNC:13753",
        "name": "fibronectin type III and SPRY domain containing 1 like",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fsd1l"
      },
      {
        "slug": "h4c5",
        "symbol": "H4C5",
        "hgnc": "HGNC:4790",
        "name": "H4 clustered histone 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/h4c5"
      },
      {
        "slug": "hsd17b10",
        "symbol": "HSD17B10",
        "hgnc": "HGNC:4800",
        "name": "hydroxysteroid 17-beta dehydrogenase 10",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hsd17b10"
      },
      {
        "slug": "hsd17b4",
        "symbol": "HSD17B4",
        "hgnc": "HGNC:5213",
        "name": "hydroxysteroid 17-beta dehydrogenase 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hsd17b4"
      },
      {
        "slug": "iars2",
        "symbol": "IARS2",
        "hgnc": "HGNC:29685",
        "name": "isoleucyl-tRNA synthetase 2, mitochondrial",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/iars2"
      },
      {
        "slug": "ntrk2",
        "symbol": "NTRK2",
        "hgnc": "HGNC:8032",
        "name": "neurotrophic receptor tyrosine kinase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ntrk2"
      },
      {
        "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": "tango2",
        "symbol": "TANGO2",
        "hgnc": "HGNC:25439",
        "name": "transport and golgi organization 2 homolog",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tango2"
      },
      {
        "slug": "tubb3",
        "symbol": "TUBB3",
        "hgnc": "HGNC:20772",
        "name": "tubulin beta 3 class III",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tubb3"
      },
      {
        "slug": "psap",
        "symbol": "PSAP",
        "hgnc": "HGNC:9498",
        "name": "prosaposin",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/psap"
      },
      {
        "slug": "rnu4-2",
        "symbol": "RNU4-2",
        "hgnc": "HGNC:10193",
        "name": "RNA, U4 small nuclear 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu4-2"
      },
      {
        "slug": "sptbn1",
        "symbol": "SPTBN1",
        "hgnc": "HGNC:11275",
        "name": "spectrin beta, non-erythrocytic 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptbn1"
      },
      {
        "slug": "acp5",
        "symbol": "ACP5",
        "hgnc": "HGNC:124",
        "name": "acid phosphatase 5, tartrate resistant",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acp5"
      },
      {
        "slug": "add3",
        "symbol": "ADD3",
        "hgnc": "HGNC:245",
        "name": "adducin 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/add3"
      },
      {
        "slug": "bcor",
        "symbol": "BCOR",
        "hgnc": "HGNC:20893",
        "name": "BCL6 corepressor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bcor"
      },
      {
        "slug": "coxfa4",
        "symbol": "COXFA4",
        "hgnc": "HGNC:7687",
        "name": "cytochrome c oxidase associated subunit FA4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/coxfa4"
      },
      {
        "slug": "gcdh",
        "symbol": "GCDH",
        "hgnc": "HGNC:4189",
        "name": "glutaryl-CoA dehydrogenase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gcdh"
      },
      {
        "slug": "huwe1",
        "symbol": "HUWE1",
        "hgnc": "HGNC:30892",
        "name": "HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/huwe1"
      },
      {
        "slug": "naa10",
        "symbol": "NAA10",
        "hgnc": "HGNC:18704",
        "name": "N-alpha-acetyltransferase 10, NatA catalytic subunit",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/naa10"
      },
      {
        "slug": "pnp",
        "symbol": "PNP",
        "hgnc": "HGNC:7892",
        "name": "purine nucleoside phosphorylase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pnp"
      },
      {
        "slug": "six6",
        "symbol": "SIX6",
        "hgnc": "HGNC:10892",
        "name": "SIX homeobox 6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/six6"
      },
      {
        "slug": "sox2",
        "symbol": "SOX2",
        "hgnc": "HGNC:11195",
        "name": "SRY-box transcription factor 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox2"
      }
    ]
  }
}