{
  "url": "https://dantelabs.com/traits/lower-limb-amyotrophy",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "lower-limb-amyotrophy",
    "id": "HP:0007210",
    "name": "Lower limb amyotrophy",
    "definition": "Muscular atrophy affecting the lower limb.",
    "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": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      }
    ],
    "narrower": [
      {
        "slug": "distal-lower-limb-amyotrophy",
        "name": "Distal lower limb amyotrophy",
        "genes": 65,
        "url": "https://dantelabs.com/traits/distal-lower-limb-amyotrophy"
      }
    ],
    "genes": [
      {
        "slug": "hmgcr",
        "symbol": "HMGCR",
        "hgnc": "HGNC:5006",
        "name": "3-hydroxy-3-methylglutaryl-CoA reductase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hmgcr"
      },
      {
        "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": "mfn2",
        "symbol": "MFN2",
        "hgnc": "HGNC:16877",
        "name": "mitofusin 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mfn2"
      },
      {
        "slug": "mtrfr",
        "symbol": "MTRFR",
        "hgnc": "HGNC:26784",
        "name": "mitochondrial translation release factor in rescue",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mtrfr"
      },
      {
        "slug": "nefh",
        "symbol": "NEFH",
        "hgnc": "HGNC:7737",
        "name": "neurofilament heavy chain",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nefh"
      },
      {
        "slug": "pdxk",
        "symbol": "PDXK",
        "hgnc": "HGNC:8819",
        "name": "pyridoxal kinase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdxk"
      },
      {
        "slug": "tfg",
        "symbol": "TFG",
        "hgnc": "HGNC:11758",
        "name": "trafficking from ER to golgi regulator",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tfg"
      },
      {
        "slug": "aimp1",
        "symbol": "AIMP1",
        "hgnc": "HGNC:10648",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aimp1"
      },
      {
        "slug": "coq7",
        "symbol": "COQ7",
        "hgnc": "HGNC:2244",
        "name": "coenzyme Q7, hydroxylase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/coq7"
      },
      {
        "slug": "hycc1",
        "symbol": "HYCC1",
        "hgnc": "HGNC:24587",
        "name": "hyccin PI4KA lipid kinase complex subunit 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hycc1"
      },
      {
        "slug": "kat6a",
        "symbol": "KAT6A",
        "hgnc": "HGNC:13013",
        "name": "lysine acetyltransferase 6A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kat6a"
      },
      {
        "slug": "morc2",
        "symbol": "MORC2",
        "hgnc": "HGNC:23573",
        "name": "MORC family CW-type zinc finger 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/morc2"
      },
      {
        "slug": "plp1",
        "symbol": "PLP1",
        "hgnc": "HGNC:9086",
        "name": "proteolipid protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plp1"
      },
      {
        "slug": "adss1",
        "symbol": "ADSS1",
        "hgnc": "HGNC:20093",
        "name": "adenylosuccinate synthase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adss1"
      },
      {
        "slug": "ano5",
        "symbol": "ANO5",
        "hgnc": "HGNC:27337",
        "name": "anoctamin 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ano5"
      },
      {
        "slug": "arsi",
        "symbol": "ARSI",
        "hgnc": "HGNC:32521",
        "name": "arylsulfatase family member I",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arsi"
      },
      {
        "slug": "atad3a",
        "symbol": "ATAD3A",
        "hgnc": "HGNC:25567",
        "name": "ATPase family AAA domain containing 3A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atad3a"
      },
      {
        "slug": "bicd2",
        "symbol": "BICD2",
        "hgnc": "HGNC:17208",
        "name": "BICD cargo adaptor 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bicd2"
      },
      {
        "slug": "cyp7b1",
        "symbol": "CYP7B1",
        "hgnc": "HGNC:2652",
        "name": "cytochrome P450 family 7 subfamily B member 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cyp7b1"
      },
      {
        "slug": "fars2",
        "symbol": "FARS2",
        "hgnc": "HGNC:21062",
        "name": "phenylalanyl-tRNA synthetase 2, mitochondrial",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fars2"
      },
      {
        "slug": "hk1",
        "symbol": "HK1",
        "hgnc": "HGNC:4922",
        "name": "hexokinase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hk1"
      },
      {
        "slug": "kif1a",
        "symbol": "KIF1A",
        "hgnc": "HGNC:888",
        "name": "kinesin family member 1A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif1a"
      },
      {
        "slug": "ky",
        "symbol": "KY",
        "hgnc": "HGNC:26576",
        "name": "kyphoscoliosis peptidase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ky"
      },
      {
        "slug": "lamp2",
        "symbol": "LAMP2",
        "hgnc": "HGNC:6501",
        "name": "lysosome associated membrane protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lamp2"
      },
      {
        "slug": "ndrg1",
        "symbol": "NDRG1",
        "hgnc": "HGNC:7679",
        "name": "N-myc downstream regulated 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndrg1"
      },
      {
        "slug": "rtn2",
        "symbol": "RTN2",
        "hgnc": "HGNC:10468",
        "name": "reticulon 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rtn2"
      },
      {
        "slug": "slc33a1",
        "symbol": "SLC33A1",
        "hgnc": "HGNC:95",
        "name": "solute carrier family 33 member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc33a1"
      },
      {
        "slug": "ubap1",
        "symbol": "UBAP1",
        "hgnc": "HGNC:12461",
        "name": "ubiquitin associated protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ubap1"
      },
      {
        "slug": "vwa1",
        "symbol": "VWA1",
        "hgnc": "HGNC:30910",
        "name": "von Willebrand factor A domain containing 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vwa1"
      },
      {
        "slug": "gne",
        "symbol": "GNE",
        "hgnc": "HGNC:23657",
        "name": "glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gne"
      },
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "hgnc": "HGNC:6636",
        "name": "lamin A/C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmna"
      },
      {
        "slug": "mypn",
        "symbol": "MYPN",
        "hgnc": "HGNC:23246",
        "name": "myopalladin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mypn"
      },
      {
        "slug": "nefl",
        "symbol": "NEFL",
        "hgnc": "HGNC:7739",
        "name": "neurofilament light chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nefl"
      },
      {
        "slug": "nexmif",
        "symbol": "NEXMIF",
        "hgnc": "HGNC:29433",
        "name": "neurite extension and migration factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nexmif"
      },
      {
        "slug": "tpm2",
        "symbol": "TPM2",
        "hgnc": "HGNC:12011",
        "name": "tropomyosin 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tpm2"
      },
      {
        "slug": "tpm3",
        "symbol": "TPM3",
        "hgnc": "HGNC:12012",
        "name": "tropomyosin 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tpm3"
      },
      {
        "slug": "fbxo38",
        "symbol": "FBXO38",
        "hgnc": "HGNC:28844",
        "name": "F-box protein 38",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbxo38"
      },
      {
        "slug": "fitm2",
        "symbol": "FITM2",
        "hgnc": "HGNC:16135",
        "name": "fat storage inducing transmembrane protein 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fitm2"
      }
    ]
  }
}