{
  "url": "https://dantelabs.com/ro/genes/l2hgdh",
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    "name": "L-2-hydroxyglutarate dehydrogenase",
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      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
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        "name": "Abnormal pyramidal sign",
        "systems": [
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        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
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      {
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        "name": "Abnormal pyramidal tract morphology",
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        "url": "https://dantelabs.com/traits/abnormal-pyramidal-tract-morphology"
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      {
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        "name": "Abnormality of extrapyramidal motor function",
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        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function"
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      {
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        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-cerebellum"
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      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
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      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
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        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
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        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "infectious-encephalitis",
        "name": "Brain inflammation",
        "systems": [
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          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/infectious-encephalitis"
      },
      {
        "slug": "corpus-callosum-atrophy",
        "name": "Corpus callosum atrophy",
        "systems": [
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        "url": "https://dantelabs.com/traits/corpus-callosum-atrophy"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
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        ],
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "aphasia",
        "name": "Difficulty finding words",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aphasia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "global-brain-atrophy",
        "name": "Generalized brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-brain-atrophy"
      },
      {
        "slug": "gliosis",
        "name": "Gliosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gliosis"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "l-2-hydroxyglutaric-acidemia",
        "name": "L-2-hydroxyglutaric acidemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/l-2-hydroxyglutaric-acidemia"
      },
      {
        "slug": "l-2-hydroxyglutaric-aciduria",
        "name": "L-2-hydroxyglutaric aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/l-2-hydroxyglutaric-aciduria"
      },
      {
        "slug": "leukoencephalopathy",
        "name": "Leukoencephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/leukoencephalopathy"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "neoplasm-of-the-nervous-system",
        "name": "Nervous system cancer",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-nervous-system"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "severe-demyelination-of-the-white-matter",
        "name": "Severe demyelination of the white matter",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/severe-demyelination-of-the-white-matter"
      },
      {
        "slug": "spastic-tetraparesis",
        "name": "Spastic tetraparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-tetraparesis"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}