{
  "url": "https://dantelabs.com/el/genes/gcdh",
  "gene": {
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    "symbol": "GCDH",
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    },
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      "build": "GRCh37",
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        {
          "symbol": "DHPS",
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          "symbol": "TRIR",
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          "symbol": "GET3",
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        {
          "symbol": "BEST2",
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        {
          "symbol": "HOOK2",
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        {
          "symbol": "JUNB",
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        {
          "symbol": "PRDX2",
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        {
          "symbol": "THSD8",
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          "biotype": "protein_coding",
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        {
          "symbol": "RNASEH2A",
          "ensemblId": "ENSG00000104889",
          "biotype": "protein_coding",
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          "slug": "rnaseh2a"
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        {
          "symbol": "RTBDN",
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        {
          "symbol": "MAST1",
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        {
          "symbol": "DNASE2",
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          "biotype": "protein_coding",
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        {
          "symbol": "KLF1",
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        {
          "symbol": "SYCE2",
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        {
          "symbol": "FARSA",
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          "slug": "farsa"
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        {
          "symbol": "CALR",
          "ensemblId": "ENSG00000179218",
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        {
          "symbol": "RAD23A",
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          "slug": "rad23a"
        },
        {
          "symbol": "GADD45GIP1",
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          "biotype": "protein_coding",
          "start": 12950701,
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          "strand": "-",
          "slug": "gadd45gip1"
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        {
          "symbol": "DAND5",
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          "biotype": "protein_coding",
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          "slug": "dand5"
        },
        {
          "symbol": "NFIX",
          "ensemblId": "ENSG00000008441",
          "biotype": "protein_coding",
          "start": 12995401,
          "end": 13098796,
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        },
        {
          "symbol": "LYL1",
          "ensemblId": "ENSG00000104903",
          "biotype": "protein_coding",
          "start": 13099028,
          "end": 13103188,
          "strand": "-",
          "slug": "lyl1"
        },
        {
          "symbol": "TRMT1",
          "ensemblId": "ENSG00000104907",
          "biotype": "protein_coding",
          "start": 13104899,
          "end": 13117567,
          "strand": "-",
          "slug": "trmt1"
        },
        {
          "symbol": "NACC1",
          "ensemblId": "ENSG00000160877",
          "biotype": "protein_coding",
          "start": 13116468,
          "end": 13141147,
          "strand": "+",
          "slug": "nacc1"
        },
        {
          "symbol": "STX10",
          "ensemblId": "ENSG00000104915",
          "biotype": "protein_coding",
          "start": 13144058,
          "end": 13150383,
          "strand": "-",
          "slug": "stx10"
        },
        {
          "symbol": "IER2",
          "ensemblId": "ENSG00000160888",
          "biotype": "protein_coding",
          "start": 13150403,
          "end": 13156981,
          "strand": "+",
          "slug": "ier2"
        },
        {
          "symbol": "CACNA1A",
          "ensemblId": "ENSG00000141837",
          "biotype": "protein_coding",
          "start": 13206442,
          "end": 13624489,
          "strand": "-",
          "slug": "cacna1a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "classic-organic-acidurias",
        "name": "Κλασικές οργανικές αciduρίες",
        "diseases": [
          {
            "mondoId": "MONDO:0009281",
            "name": "Γλουταρική αciduρία τύπου 1",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Προκαλείται από παραλλαγές στο GCDH, οι οποίες μπορεί να οδηγήσουν σε απότομη βλάβη των περιοχών του εγκεφάλου που ελέγχουν την κίνηση κατά τη διάρκεια ασθένειας στην πρώιμη παιδική ηλικία.",
            "management": "Η γνώση επιτρέπει δίαιτα με περιορισμό της λυσίνης, καρνιτίνη και εντατική άμεση θεραπεία κατά τη διάρκεια ασθένειας, που μπορεί να προλάβει βλάβη του εγκεφάλου.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/classic-organic-acidurias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-basal-ganglia-morphology",
        "name": "Abnormal basal ganglia morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-basal-ganglia-morphology"
      },
      {
        "slug": "abnormal-caudate-nucleus-morphology",
        "name": "Abnormal caudate nucleus morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-caudate-nucleus-morphology"
      },
      {
        "slug": "abnormal-cerebral-white-matter-morphology",
        "name": "Abnormal cerebral white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology"
      },
      {
        "slug": "abnormal-circulating-enzyme-concentration-or-activity",
        "name": "Abnormal circulating enzyme concentration or activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-enzyme-concentration-or-activity"
      },
      {
        "slug": "abnormal-putamen-morphology",
        "name": "Abnormal putamen morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-putamen-morphology"
      },
      {
        "slug": "abnormality-of-the-respiratory-system",
        "name": "Abnormality of the respiratory system",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-respiratory-system"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "acute-encephalopathy",
        "name": "Acute encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/acute-encephalopathy"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "chorea",
        "name": "Chorea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chorea"
      },
      {
        "slug": "choreoathetosis",
        "name": "Choreoathetosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/choreoathetosis"
      },
      {
        "slug": "chronic-kidney-disease",
        "name": "Chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/chronic-kidney-disease"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "communicating-hydrocephalus",
        "name": "Communicating hydrocephalus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/communicating-hydrocephalus"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "vertigo",
        "name": "Dizziness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vertigo"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "elevated-circulating-glutaric-acid-concentration",
        "name": "Elevated circulating glutaric acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-glutaric-acid-concentration"
      },
      {
        "slug": "elevated-circulating-glutarylcarnitine-concentration",
        "name": "Elevated circulating glutarylcarnitine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-glutarylcarnitine-concentration"
      },
      {
        "slug": "elevated-urine-3-hydroxyglutaric-level",
        "name": "Elevated urine 3-hydroxyglutaric level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-urine-3-hydroxyglutaric-level"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "enlarged-sylvian-cistern",
        "name": "Enlarged sylvian cistern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/enlarged-sylvian-cistern"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "glutaric-aciduria",
        "name": "Glutaric aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/glutaric-aciduria"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "ketosis",
        "name": "High levels of ketone bodies",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/ketosis"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "incoordination",
        "name": "Incoordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/incoordination"
      },
      {
        "slug": "increased-head-circumference",
        "name": "Increased head circumference",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-head-circumference"
      },
      {
        "slug": "hyperketonemia",
        "name": "Increased level of ketone bodies in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperketonemia"
      },
      {
        "slug": "infantile-encephalopathy",
        "name": "Infantile encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/infantile-encephalopathy"
      },
      {
        "slug": "infantile-spasms",
        "name": "Infantile spasms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/infantile-spasms"
      },
      {
        "slug": "athetosis",
        "name": "Involuntary writhing movements in fingers, hands, toes, and feet",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/athetosis"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "joint-dislocation",
        "name": "Joint dislocation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-dislocation"
      },
      {
        "slug": "ketonuria",
        "name": "Ketonuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/ketonuria"
      },
      {
        "slug": "lateral-ventricle-dilatation",
        "name": "Lateral ventricle dilatation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/lateral-ventricle-dilatation"
      },
      {
        "slug": "limb-dystonia",
        "name": "Limb dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/limb-dystonia"
      },
      {
        "slug": "loss-of-consciousness",
        "name": "Loss of consciousness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/loss-of-consciousness"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "fasting-hypoglycemia",
        "name": "Low blood sugar when fasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fasting-hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "open-operculum",
        "name": "Open operculum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/open-operculum"
      },
      {
        "slug": "opisthotonus",
        "name": "Opisthotonus",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/opisthotonus"
      },
      {
        "slug": "pallidal-degeneration",
        "name": "Pallidal degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pallidal-degeneration"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "progressive-macrocephaly",
        "name": "Progressively abnormally enlarging cranium",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-macrocephaly"
      },
      {
        "slug": "reduced-peroxisomal-glutaryl-coa-oxidase-activity",
        "name": "Reduced peroxisomal glutaryl-CoA oxidase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-peroxisomal-glutaryl-coa-oxidase-activity"
      },
      {
        "slug": "retinal-hemorrhage",
        "name": "Retinal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-hemorrhage"
      },
      {
        "slug": "rigidity",
        "name": "Rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rigidity"
      },
      {
        "slug": "severe-muscular-hypotonia",
        "name": "Severely decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/severe-muscular-hypotonia"
      },
      {
        "slug": "spastic-diplegia",
        "name": "Spastic diplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spastic-diplegia"
      },
      {
        "slug": "subdural-hemorrhage",
        "name": "Subdural hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/subdural-hemorrhage"
      },
      {
        "slug": "subependymal-nodules",
        "name": "Subependymal nodules",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/subependymal-nodules"
      },
      {
        "slug": "symmetrical-progressive-peripheral-demyelination",
        "name": "Symmetrical progressive peripheral demyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/symmetrical-progressive-peripheral-demyelination"
      },
      {
        "slug": "t2-hypointense-basal-ganglia",
        "name": "T2 hypointense basal ganglia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/t2-hypointense-basal-ganglia"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "widened-subarachnoid-space",
        "name": "Widened subarachnoid space",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/widened-subarachnoid-space"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}