{
  "url": "https://dantelabs.com/nl/genes/coq2",
  "gene": {
    "slug": "coq2",
    "symbol": "COQ2",
    "name": "coenzyme Q2, polyprenyltransferase",
    "hgnc": "HGNC:25223",
    "summary": null,
    "location": "4q21.23",
    "locusType": "gene with protein product",
    "aliases": [
      "CL640",
      "FLJ26072"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000173085",
    "entrezId": 27235,
    "omim": [
      "609825"
    ],
    "uniprot": [
      "Q96H96"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 83263824,
      "end": 83284798,
      "strand": "-",
      "ensemblTranscript": "ENST00000647002.2",
      "refseqTranscript": "NM_001358921.2",
      "ensemblProtein": "ENSP00000495761.2",
      "refseqProtein": "NP_001345850.1",
      "exons": [
        {
          "start": 83263824,
          "end": 83264363
        },
        {
          "start": 83267586,
          "end": 83267774
        },
        {
          "start": 83269860,
          "end": 83269993
        },
        {
          "start": 83272087,
          "end": 83272172
        },
        {
          "start": 83273496,
          "end": 83273617
        },
        {
          "start": 83278948,
          "end": 83279114
        },
        {
          "start": 83284512,
          "end": 83284798
        }
      ],
      "cds": {
        "start": 83264199,
        "end": 83284764
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 84182689,
      "end": 84206067,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 82774311,
      "end": 83774310,
      "genes": [
        {
          "symbol": "SCD5",
          "ensemblId": "ENSG00000145284",
          "biotype": "protein_coding",
          "start": 82629539,
          "end": 82799109,
          "strand": "-",
          "slug": "scd5"
        },
        {
          "symbol": "SEC31A",
          "ensemblId": "ENSG00000138674",
          "biotype": "protein_coding",
          "start": 82817500,
          "end": 82901166,
          "strand": "-",
          "slug": "sec31a"
        },
        {
          "symbol": "THAP9",
          "ensemblId": "ENSG00000168152",
          "biotype": "protein_coding",
          "start": 82900684,
          "end": 82920287,
          "strand": "+",
          "slug": "thap9"
        },
        {
          "symbol": "LIN54",
          "ensemblId": "ENSG00000189308",
          "biotype": "protein_coding",
          "start": 82909973,
          "end": 83012991,
          "strand": "-",
          "slug": "lin54"
        },
        {
          "symbol": "COPS4",
          "ensemblId": "ENSG00000138663",
          "biotype": "protein_coding",
          "start": 83034447,
          "end": 83075818,
          "strand": "+",
          "slug": "cops4"
        },
        {
          "symbol": "PLAC8",
          "ensemblId": "ENSG00000145287",
          "biotype": "protein_coding",
          "start": 83059493,
          "end": 83137075,
          "strand": "-",
          "slug": "plac8"
        },
        {
          "symbol": "HPSE",
          "ensemblId": "ENSG00000173083",
          "biotype": "protein_coding",
          "start": 83292461,
          "end": 83335153,
          "strand": "-",
          "slug": "hpse"
        },
        {
          "symbol": "HELQ",
          "ensemblId": "ENSG00000163312",
          "biotype": "protein_coding",
          "start": 83406976,
          "end": 83455900,
          "strand": "-",
          "slug": "helq"
        },
        {
          "symbol": "MRPS18C",
          "ensemblId": "ENSG00000163319",
          "biotype": "protein_coding",
          "start": 83455930,
          "end": 83475844,
          "strand": "+",
          "slug": "mrps18c"
        },
        {
          "symbol": "ABRAXAS1",
          "ensemblId": "ENSG00000163322",
          "biotype": "protein_coding",
          "start": 83459517,
          "end": 83523348,
          "strand": "-",
          "slug": "abraxas1"
        },
        {
          "symbol": "GPAT3",
          "ensemblId": "ENSG00000138678",
          "biotype": "protein_coding",
          "start": 83535619,
          "end": 83605875,
          "strand": "+",
          "slug": "gpat3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primaire mitochondriële ziekte",
        "diseases": [
          {
            "mondoId": "MONDO:0018151",
            "name": "Coenzym Q10-deficiëntie",
            "genes": 8,
            "inheritance": "autosomal-recessive",
            "description": "Veroorzaakt door varianten in genen die nodig zijn voor de aanmaak van coenzym Q10, zoals COQ2, COQ8A en PDSS2. Dit kan nierziekte, evenwichtsproblemen, spierzwakte of hersenziekte veroorzaken.",
            "management": "Weten is bruikbaar: primaire coenzym Q10-deficiëntie kan reageren op coenzym Q10-supplementen in hoge doses, vooral wanneer vroeg wordt gestart.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-autonomic-nervous-system-physiology",
        "name": "Abnormal autonomic nervous system physiology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-autonomic-nervous-system-physiology"
      },
      {
        "slug": "abnormal-brain-fdg-positron-emission-tomography",
        "name": "Abnormal brain FDG positron emission tomography",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-brain-fdg-positron-emission-tomography"
      },
      {
        "slug": "abnormal-pyramidal-sign",
        "name": "Abnormal pyramidal sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
      },
      {
        "slug": "abnormal-rapid-eye-movement-sleep",
        "name": "Abnormal rapid eye movement sleep",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-rapid-eye-movement-sleep"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "autonomic-bladder-dysfunction",
        "name": "Autonomic bladder dysfunction",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autonomic-bladder-dysfunction"
      },
      {
        "slug": "autonomic-erectile-dysfunction",
        "name": "Autonomic erectile dysfunction",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autonomic-erectile-dysfunction"
      },
      {
        "slug": "axial-dystonia",
        "name": "Axial dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/axial-dystonia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "postural-instability",
        "name": "Balance impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postural-instability"
      },
      {
        "slug": "camptocormia",
        "name": "Camptocormia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/camptocormia"
      },
      {
        "slug": "central-sleep-apnea",
        "name": "Central sleep apnea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/central-sleep-apnea"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "orthostatic-hypotension",
        "name": "Decrease in blood pressure upon standing up",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/orthostatic-hypotension"
      },
      {
        "slug": "hypohidrosis",
        "name": "Decreased ability to sweat",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hypohidrosis"
      },
      {
        "slug": "decreased-level-of-coenzyme-q10-in-skeletal-muscle",
        "name": "Decreased level of coenzyme Q10 in skeletal muscle",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-level-of-coenzyme-q10-in-skeletal-muscle"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "impotence",
        "name": "Difficulty getting a full erection",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/impotence"
      },
      {
        "slug": "diffuse-cerebral-atrophy",
        "name": "Diffuse cerebral atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diffuse-cerebral-atrophy"
      },
      {
        "slug": "downbeat-nystagmus",
        "name": "Downbeat nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/downbeat-nystagmus"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "episodic-vomiting",
        "name": "Episodic vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/episodic-vomiting"
      },
      {
        "slug": "scanning-speech",
        "name": "Explosive speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/scanning-speech"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "female-anorgasmia",
        "name": "Female orgasmic disorder",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/female-anorgasmia"
      },
      {
        "slug": "focal-segmental-glomerulosclerosis",
        "name": "Focal segmental glomerulosclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/focal-segmental-glomerulosclerosis"
      },
      {
        "slug": "frequent-falls",
        "name": "Frequent falls",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "slug": "gaze-evoked-nystagmus",
        "name": "Gaze-evoked nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gaze-evoked-nystagmus"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "glomerular-sclerosis",
        "name": "Glomerular sclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/glomerular-sclerosis"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "hypergonadotropic-hypogonadism",
        "name": "Hypergonadotropic hypogonadism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hypergonadotropic-hypogonadism"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "dysphonia",
        "name": "Inability to produce voice sounds",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysphonia"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "iris-atrophy",
        "name": "Iris degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/iris-atrophy"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "apathy",
        "name": "Lack of feeling, emotion, interest",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/apathy"
      },
      {
        "slug": "anhidrosis",
        "name": "Lack of sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/anhidrosis"
      },
      {
        "slug": "limb-ataxia",
        "name": "Limb ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-ataxia"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "nephrotic-syndrome",
        "name": "Nephrotic syndrome",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/nephrotic-syndrome"
      },
      {
        "slug": "neuromuscular-dysphagia",
        "name": "Neuromuscular dysphagia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neuromuscular-dysphagia"
      },
      {
        "slug": "stridor",
        "name": "Noisy breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stridor"
      },
      {
        "slug": "olivopontocerebellar-atrophy",
        "name": "Olivopontocerebellar atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/olivopontocerebellar-atrophy"
      },
      {
        "slug": "neurodegeneration",
        "name": "Ongoing loss of nerve cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/neurodegeneration"
      },
      {
        "slug": "orofacial-dyskinesia",
        "name": "Orofacial dyskinesia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/orofacial-dyskinesia"
      },
      {
        "slug": "orthostatic-hypotension-due-to-autonomic-dysfunction",
        "name": "Orthostatic hypotension due to autonomic dysfunction",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/orthostatic-hypotension-due-to-autonomic-dysfunction"
      },
      {
        "slug": "orthostatic-syncope",
        "name": "Orthostatic syncope",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/orthostatic-syncope"
      },
      {
        "slug": "parkinsonism",
        "name": "Parkinsonism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/parkinsonism"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "postural-tremor",
        "name": "Postural tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postural-tremor"
      },
      {
        "slug": "progressive-cerebellar-ataxia",
        "name": "Progressive cerebellar ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia"
      },
      {
        "slug": "progressive-muscle-weakness",
        "name": "Progressive muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-muscle-weakness"
      },
      {
        "slug": "ragged-red-muscle-fibers",
        "name": "Ragged-red muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/ragged-red-muscle-fibers"
      },
      {
        "slug": "raynaud-phenomenon",
        "name": "Raynaud phenomenon",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/raynaud-phenomenon"
      },
      {
        "slug": "recurrent-myoglobinuria",
        "name": "Recurrent myoglobinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-myoglobinuria"
      },
      {
        "slug": "status-epilepticus",
        "name": "Repeated seizures without recovery between them",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/status-epilepticus"
      },
      {
        "slug": "resting-tremor",
        "name": "Resting tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/resting-tremor"
      },
      {
        "slug": "right-hemiplegia",
        "name": "Right hemiplegia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/right-hemiplegia"
      },
      {
        "slug": "rigidity",
        "name": "Rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rigidity"
      },
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "bradykinesia",
        "name": "Slow movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bradykinesia"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "urinary-urgency",
        "name": "Urinary urgency",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/urinary-urgency"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/visual-loss"
      },
      {
        "slug": "broad-based-gait",
        "name": "Wide based walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/broad-based-gait"
      }
    ],
    "related": [
      {
        "slug": "coq4",
        "symbol": "COQ4",
        "name": "coenzyme Q4",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/coq4"
      },
      {
        "slug": "coq6",
        "symbol": "COQ6",
        "name": "coenzyme Q6, monooxygenase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/coq6"
      },
      {
        "slug": "coq7",
        "symbol": "COQ7",
        "name": "coenzyme Q7, hydroxylase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/coq7"
      },
      {
        "slug": "coq8a",
        "symbol": "COQ8A",
        "name": "coenzyme Q8A",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/coq8a"
      },
      {
        "slug": "coq9",
        "symbol": "COQ9",
        "name": "coenzyme Q9",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/coq9"
      },
      {
        "slug": "pdss1",
        "symbol": "PDSS1",
        "name": "decaprenyl diphosphate synthase subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/pdss1"
      },
      {
        "slug": "pdss2",
        "symbol": "PDSS2",
        "name": "decaprenyl diphosphate synthase subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/pdss2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}