{
  "url": "https://dantelabs.com/traits/diffuse-cerebellar-atrophy",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "diffuse-cerebellar-atrophy",
    "id": "HP:0100275",
    "name": "Diffuse cerebellar atrophy",
    "definition": "Diffuse unlocalised atrophy affecting the cerebellum.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      }
    ],
    "broader": [
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "camlg",
        "symbol": "CAMLG",
        "hgnc": "HGNC:1471",
        "name": "calcium modulating ligand",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/camlg"
      },
      {
        "slug": "emc1",
        "symbol": "EMC1",
        "hgnc": "HGNC:28957",
        "name": "ER membrane protein complex subunit 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/emc1"
      },
      {
        "slug": "txn2",
        "symbol": "TXN2",
        "hgnc": "HGNC:17772",
        "name": "thioredoxin 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/txn2"
      },
      {
        "slug": "dab1",
        "symbol": "DAB1",
        "hgnc": "HGNC:2661",
        "name": "DAB adaptor protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dab1"
      },
      {
        "slug": "fmr1",
        "symbol": "FMR1",
        "hgnc": "HGNC:3775",
        "name": "fragile X messenger ribonucleoprotein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fmr1"
      },
      {
        "slug": "itpr1",
        "symbol": "ITPR1",
        "hgnc": "HGNC:6180",
        "name": "inositol 1,4,5-trisphosphate receptor type 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/itpr1"
      },
      {
        "slug": "pex10",
        "symbol": "PEX10",
        "hgnc": "HGNC:8851",
        "name": "peroxisomal biogenesis factor 10",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex10"
      },
      {
        "slug": "pnpt1",
        "symbol": "PNPT1",
        "hgnc": "HGNC:23166",
        "name": "polyribonucleotide nucleotidyltransferase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pnpt1"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "hgnc": "HGNC:20",
        "name": "alanyl-tRNA synthetase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aars1"
      },
      {
        "slug": "cars1",
        "symbol": "CARS1",
        "hgnc": "HGNC:1493",
        "name": "cysteinyl-tRNA synthetase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cars1"
      },
      {
        "slug": "cars2",
        "symbol": "CARS2",
        "hgnc": "HGNC:25695",
        "name": "cysteinyl-tRNA synthetase 2, mitochondrial",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cars2"
      },
      {
        "slug": "dbr1",
        "symbol": "DBR1",
        "hgnc": "HGNC:15594",
        "name": "debranching RNA lariats 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dbr1"
      },
      {
        "slug": "ercc2",
        "symbol": "ERCC2",
        "hgnc": "HGNC:3434",
        "name": "ERCC excision repair 2, TFIIH core complex helicase subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc2"
      },
      {
        "slug": "ercc3",
        "symbol": "ERCC3",
        "hgnc": "HGNC:3435",
        "name": "ERCC excision repair 3, TFIIH core complex helicase subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc3"
      },
      {
        "slug": "gtf2e2",
        "symbol": "GTF2E2",
        "hgnc": "HGNC:4651",
        "name": "general transcription factor IIE subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2e2"
      },
      {
        "slug": "gtf2h5",
        "symbol": "GTF2H5",
        "hgnc": "HGNC:21157",
        "name": "general transcription factor IIH subunit 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2h5"
      },
      {
        "slug": "kif1a",
        "symbol": "KIF1A",
        "hgnc": "HGNC:888",
        "name": "kinesin family member 1A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif1a"
      },
      {
        "slug": "mplkip",
        "symbol": "MPLKIP",
        "hgnc": "HGNC:16002",
        "name": "M-phase specific PLK1 interacting protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mplkip"
      },
      {
        "slug": "rnf113a",
        "symbol": "RNF113A",
        "hgnc": "HGNC:12974",
        "name": "ring finger protein 113A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnf113a"
      },
      {
        "slug": "tars1",
        "symbol": "TARS1",
        "hgnc": "HGNC:11572",
        "name": "threonyl-tRNA synthetase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tars1"
      },
      {
        "slug": "tbc1d24",
        "symbol": "TBC1D24",
        "hgnc": "HGNC:29203",
        "name": "TBC1 domain family member 24",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbc1d24"
      },
      {
        "slug": "btd",
        "symbol": "BTD",
        "hgnc": "HGNC:1122",
        "name": "biotinidase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/btd"
      }
    ]
  }
}