{
  "url": "https://dantelabs.com/pl/genes/mdh1",
  "gene": {
    "slug": "mdh1",
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    "name": "malate dehydrogenase 1",
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    "aliases": [],
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      "release": "v1.5",
      "chrom": "2",
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      "strand": "+",
      "ensemblTranscript": "ENST00000233114.13",
      "refseqTranscript": "NM_005917.4",
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    },
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        {
          "symbol": "WDPCP",
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          "biotype": "protein_coding",
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        {
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        {
          "symbol": "VPS54",
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        {
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      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
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        "name": "Crease in skin under the eye",
        "systems": [
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        "url": "https://dantelabs.com/traits/infra-orbital-crease"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
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        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "everted-lower-lip-vermilion",
        "name": "Drooping lower lip",
        "systems": [
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        "url": "https://dantelabs.com/traits/everted-lower-lip-vermilion"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
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        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epileptic-encephalopathy",
        "name": "Epileptic encephalopathy",
        "systems": [
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        "url": "https://dantelabs.com/traits/epileptic-encephalopathy"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
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        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
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        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hyperglutamatemia",
        "name": "High blood glutamate levels",
        "systems": [
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        ],
        "url": "https://dantelabs.com/traits/hyperglutamatemia"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
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        ],
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "hypoplasia-of-the-pons",
        "name": "Hypoplasia of the pons",
        "systems": [
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        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-pons"
      },
      {
        "slug": "hypsarrhythmia",
        "name": "Hypsarrhythmia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypsarrhythmia"
      },
      {
        "slug": "inferior-cerebellar-vermis-hypoplasia",
        "name": "Inferior cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/inferior-cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "partial-agenesis-of-the-corpus-callosum",
        "name": "Partial agenesis of the corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/partial-agenesis-of-the-corpus-callosum"
      },
      {
        "slug": "progressive-microcephaly",
        "name": "Progressively abnormally small cranium",
        "systems": [
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          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-microcephaly"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypertonia"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}