{
  "url": "https://dantelabs.com/sv/genes/cyp27a1",
  "gene": {
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    "symbol": "CYP27A1",
    "name": "cytochrome P450 family 27 subfamily A member 1",
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      "CP27"
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      "Q02318"
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        {
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          "symbol": "USP37",
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        {
          "symbol": "CNOT9",
          "ensemblId": "ENSG00000144580",
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          "symbol": "PLCD4",
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        {
          "symbol": "ZNF142",
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        {
          "symbol": "BCS1L",
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        {
          "symbol": "RNF25",
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          "symbol": "STK36",
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        {
          "symbol": "TTLL4",
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        {
          "symbol": "PRKAG3",
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        {
          "symbol": "WNT6",
          "ensemblId": "ENSG00000115596",
          "biotype": "protein_coding",
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        {
          "symbol": "WNT10A",
          "ensemblId": "ENSG00000135925",
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        {
          "symbol": "CDK5R2",
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        {
          "symbol": "FEV",
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        {
          "symbol": "CRYBA2",
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          "biotype": "protein_coding",
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          "slug": "cryba2"
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        {
          "symbol": "CFAP65",
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        {
          "symbol": "IHH",
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          "biotype": "protein_coding",
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        {
          "symbol": "NHEJ1",
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        {
          "symbol": "",
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          "biotype": "protein_coding",
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        },
        {
          "symbol": "SLC23A3",
          "ensemblId": "ENSG00000213901",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "slc23a3"
        },
        {
          "symbol": "CNPPD1",
          "ensemblId": "ENSG00000115649",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "cnppd1"
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        {
          "symbol": "RETREG2",
          "ensemblId": "ENSG00000144567",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "retreg2"
        },
        {
          "symbol": "ZFAND2B",
          "ensemblId": "ENSG00000158552",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "zfand2b"
        },
        {
          "symbol": "ABCB6",
          "ensemblId": "ENSG00000115657",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "abcb6"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000284820",
          "biotype": "protein_coding",
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          "end": 219222738,
          "strand": "-"
        },
        {
          "symbol": "ATG9A",
          "ensemblId": "ENSG00000198925",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "atg9a"
        },
        {
          "symbol": "ANKZF1",
          "ensemblId": "ENSG00000163516",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "ankzf1"
        },
        {
          "symbol": "GLB1L",
          "ensemblId": "ENSG00000163521",
          "biotype": "protein_coding",
          "start": 219236598,
          "end": 219245478,
          "strand": "-",
          "slug": "glb1l"
        },
        {
          "symbol": "STK16",
          "ensemblId": "ENSG00000115661",
          "biotype": "protein_coding",
          "start": 219245212,
          "end": 219250339,
          "strand": "+",
          "slug": "stk16"
        },
        {
          "symbol": "TUBA4A",
          "ensemblId": "ENSG00000127824",
          "biotype": "protein_coding",
          "start": 219249710,
          "end": 219277902,
          "strand": "-",
          "slug": "tuba4a"
        },
        {
          "symbol": "TUBA4B",
          "ensemblId": "ENSG00000243910",
          "biotype": "protein_coding",
          "start": 219253243,
          "end": 219272197,
          "strand": "+",
          "slug": "tuba4b"
        },
        {
          "symbol": "DNAJB2",
          "ensemblId": "ENSG00000135924",
          "biotype": "protein_coding",
          "start": 219279308,
          "end": 219286900,
          "strand": "+",
          "slug": "dnajb2"
        },
        {
          "symbol": "PTPRN",
          "ensemblId": "ENSG00000054356",
          "biotype": "protein_coding",
          "start": 219289623,
          "end": 219309648,
          "strand": "-",
          "slug": "ptprn"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "cerebrotendinous-xanthomatosis",
        "name": "Cerebrotendinös xantomatos",
        "diseases": [
          {
            "mondoId": "MONDO:0008948",
            "name": "Cerebrotendinös xantomatos",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Brist på sterol-27-hydroxylas ger kronisk diarré och grå starr i barndomen, xantom i senorna samt senare ataxi, spasticitet, kognitiv nedsättning och förändringar i vit substans.",
            "management": "Behandling med kenodeoxikolsyra kan förebygga eller bromsa den neurologiska sjukdomen, särskilt när den påbörjas tidigt.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 11
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/cerebrotendinous-xanthomatosis"
      },
      {
        "slug": "autosomal-recessive-cerebellar-ataxias",
        "name": "Autosomala recessiva cerebellära ataxier (inkl. CANVAS och AVED)",
        "diseases": [
          {
            "mondoId": "MONDO:0015244",
            "name": "Autosomal recessiv cerebellär ataxi",
            "genes": 57,
            "inheritance": "autosomal-recessive",
            "description": "En grupp recessivt nedärvda ataxier som orsakas av biallleliska varianter i gener som RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 och SYNE1.",
            "management": "Ataxi med vitamin E-brist (TTPA) kan behandlas med vitamin E-tillskott. Andra former behandlas med sjukgymnastik och symtomlindrande vård, och släktingar kan erbjudas bärarprov.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 11
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/autosomal-recessive-cerebellar-ataxias"
      },
      {
        "slug": "leukodystrophy",
        "name": "Andra ärftliga leukodystrofier",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Leukodystrofi (andra och ej specificerade typer)",
            "genes": 80,
            "inheritance": null,
            "description": "Ärftliga tillstånd som skadar eller förhindrar den normala bildningen av myelin, den vita substansen i hjärnan och ryggmärgen. Olika typer följer autosomalt recessiv, autosomalt dominant eller X-kopplad nedärvning beroende på vilken gen som är inblandad.",
            "management": "Att känna till den specifika genetiska orsaken kan avsluta en diagnostisk sökning, vägleda stödjande vård och uppföljning, visa om en specifik behandling finns och göra det möjligt att testa släktingar.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 11
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/leukodystrophy"
      },
      {
        "slug": "lysosomal-storage-disease",
        "name": "Lysosomal lagringssjukdom",
        "diseases": [
          {
            "mondoId": "MONDO:0002561",
            "name": "Lysosomal lagringssjukdom (andra och ospecificerade typer)",
            "genes": 59,
            "inheritance": null,
            "description": "Omfattar lysosomala lagringssjukdomar utan egen rapport, till exempel Farbers sjukdom och andra ASAH1-relaterade sjukdomar, brist på prosaposin (PSAP), multipel sulfatasbrist, mukopolysackaridos typ IX och X samt Dorfman-Chanarins sjukdom; nedärvningen varierar mellan undertyperna, oftast autosomalt recessiv.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 11
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/lysosomal-storage-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-atrial-septum-morphology",
        "name": "Abnormal atrial septum morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-atrial-septum-morphology"
      },
      {
        "slug": "abnormal-auditory-evoked-potentials",
        "name": "Abnormal auditory evoked potentials",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-auditory-evoked-potentials"
      },
      {
        "slug": "abnormal-cerebellar-peduncle-morphology",
        "name": "Abnormal cerebellar peduncle morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebellar-peduncle-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-dentate-nucleus-morphology",
        "name": "Abnormal dentate nucleus morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-dentate-nucleus-morphology"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-globus-pallidus-morphology",
        "name": "Abnormal globus pallidus morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-globus-pallidus-morphology"
      },
      {
        "slug": "abnormal-motor-evoked-potentials",
        "name": "Abnormal motor evoked potentials",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-motor-evoked-potentials"
      },
      {
        "slug": "abnormal-periventricular-white-matter-morphology",
        "name": "Abnormal periventricular white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-periventricular-white-matter-morphology"
      },
      {
        "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": "ankle-clonus",
        "name": "Abnormal rhythmic movements of ankle",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ankle-clonus"
      },
      {
        "slug": "abnormal-finger-morphology",
        "name": "Abnormalities of the fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-finger-morphology"
      },
      {
        "slug": "abnormal-circulating-cholesterol-concentration",
        "name": "Abnormality of cholesterol metabolism",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/abnormal-circulating-cholesterol-concentration"
      },
      {
        "slug": "abnormality-of-extrapyramidal-motor-function",
        "name": "Abnormality of extrapyramidal motor function",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function"
      },
      {
        "slug": "abnormal-lung-morphology",
        "name": "Abnormality of lung structure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-lung-morphology"
      },
      {
        "slug": "abnormal-retinal-vascular-morphology",
        "name": "Abnormality of retina blood vessels",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-vascular-morphology"
      },
      {
        "slug": "abnormality-of-somatosensory-evoked-potentials",
        "name": "Abnormality of somatosensory evoked potentials",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-somatosensory-evoked-potentials"
      },
      {
        "slug": "abnormal-achilles-tendon-morphology",
        "name": "Abnormality of the Achilles tendon",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-achilles-tendon-morphology"
      },
      {
        "slug": "abnormal-cerebellum-morphology",
        "name": "Abnormality of the cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebellum-morphology"
      },
      {
        "slug": "abnormality-of-the-elbow",
        "name": "Abnormality of the elbow",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-elbow"
      },
      {
        "slug": "abnormal-eyelid-morphology",
        "name": "Abnormality of the eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-eyelid-morphology"
      },
      {
        "slug": "abnormality-of-the-hand",
        "name": "Abnormality of the hand",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-hand"
      },
      {
        "slug": "abnormality-of-the-neck",
        "name": "Abnormality of the neck",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-neck"
      },
      {
        "slug": "abnormality-of-the-plantar-skin-of-foot",
        "name": "Abnormality of the plantar skin of foot",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-plantar-skin-of-foot"
      },
      {
        "slug": "abnormal-tibia-morphology",
        "name": "Abnormality of the shankbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-tibia-morphology"
      },
      {
        "slug": "abnormal-femur-morphology",
        "name": "Abnormality of the thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-femur-morphology"
      },
      {
        "slug": "abnormality-of-the-vertebral-spinous-processes",
        "name": "Abnormality of the vertebral spinous processes",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-vertebral-spinous-processes"
      },
      {
        "slug": "abnormality-of-visual-evoked-potentials",
        "name": "Abnormality of visual evoked potentials",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-visual-evoked-potentials"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "agitation",
        "name": "Agitation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/agitation"
      },
      {
        "slug": "angina-pectoris",
        "name": "Angina pectoris",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/angina-pectoris"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "autism",
        "name": "Autism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autism"
      },
      {
        "slug": "axonal-degeneration",
        "name": "Axonal degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/axonal-degeneration"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "chronic-diarrhea",
        "name": "Chronic diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-diarrhea"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "cns-demyelination",
        "name": "CNS demyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cns-demyelination"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "optic-neuropathy",
        "name": "Damaged optic nerve",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-neuropathy"
      },
      {
        "slug": "decreased-nerve-conduction-velocity",
        "name": "Decreased nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-nerve-conduction-velocity"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-somatosensory-central-conduction-time",
        "name": "Delayed somatosensory central conduction time",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-somatosensory-central-conduction-time"
      },
      {
        "slug": "delusion",
        "name": "Delusions",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delusion"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "spontaneous-tooth-loss",
        "name": "Early tooth loss",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spontaneous-tooth-loss"
      },
      {
        "slug": "eeg-with-generalized-slow-activity",
        "name": "EEG with generalized slow activity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/eeg-with-generalized-slow-activity"
      },
      {
        "slug": "elevated-brain-choline-level-by-mrs",
        "name": "Elevated brain choline level by MRS",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-brain-choline-level-by-mrs"
      },
      {
        "slug": "elevated-brain-lactate-level-by-mrs",
        "name": "Elevated brain lactate level by MRS",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-brain-lactate-level-by-mrs"
      },
      {
        "slug": "elevated-circulating-bile-alcohol-concentration",
        "name": "Elevated circulating bile alcohol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-bile-alcohol-concentration"
      },
      {
        "slug": "elevated-csf-cholestanol-concentration",
        "name": "Elevated CSF cholestanol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-csf-cholestanol-concentration"
      },
      {
        "slug": "elevated-urinary-bile-alcohol-level",
        "name": "Elevated urinary bile alcohol level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-urinary-bile-alcohol-level"
      },
      {
        "slug": "emg-axonal-abnormality",
        "name": "EMG: axonal abnormality",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/emg-axonal-abnormality"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "xanthelasma",
        "name": "Fatty deposits in skin around the eyes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/xanthelasma"
      },
      {
        "slug": "cholelithiasis",
        "name": "Gallstones",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cholelithiasis"
      },
      {
        "slug": "global-brain-atrophy",
        "name": "Generalized brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-brain-atrophy"
      },
      {
        "slug": "gliosis",
        "name": "Gliosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gliosis"
      },
      {
        "slug": "hallucinations",
        "name": "Hallucinations",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hallucinations"
      },
      {
        "slug": "myocardial-infarction",
        "name": "Heart attack",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/myocardial-infarction"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "hyperintensity-of-cerebral-white-matter-on-mri",
        "name": "Hyperintensity of cerebral white matter on MRI",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperintensity-of-cerebral-white-matter-on-mri"
      },
      {
        "slug": "hypermyelinated-retinal-nerve-fibers",
        "name": "Hypermyelinated retinal nerve fibers",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypermyelinated-retinal-nerve-fibers"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "increased-susceptibility-to-fractures",
        "name": "Increased susceptibility to fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "juvenile-cataract",
        "name": "Juvenile cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/juvenile-cataract"
      },
      {
        "slug": "long-tract-sign",
        "name": "Long-tract sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/long-tract-sign"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "mitochondrial-respiratory-chain-defects",
        "name": "Mitochondrial respiratory chain defects",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mitochondrial-respiratory-chain-defects"
      },
      {
        "slug": "myelopathy",
        "name": "Myelopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/myelopathy"
      },
      {
        "slug": "neurodevelopmental-delay",
        "name": "Neurodevelopmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neurodevelopmental-delay"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "orofacial-dyskinesia",
        "name": "Orofacial dyskinesia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/orofacial-dyskinesia"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "palatal-tremor",
        "name": "Palatal tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/palatal-tremor"
      },
      {
        "slug": "parkinsonism",
        "name": "Parkinsonism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/parkinsonism"
      },
      {
        "slug": "paraparesis",
        "name": "Partial paralysis of legs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paraparesis"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "personality-disorder",
        "name": "Personality disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/personality-disorder"
      },
      {
        "slug": "premature-coronary-artery-atherosclerosis",
        "name": "Premature coronary artery disease",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/premature-coronary-artery-atherosclerosis"
      },
      {
        "slug": "precocious-atherosclerosis",
        "name": "Premature plaque build-up in arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/precocious-atherosclerosis"
      },
      {
        "slug": "prematurely-aged-appearance",
        "name": "Prematurely aged appearance",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prematurely-aged-appearance"
      },
      {
        "slug": "progressive-psychomotor-deterioration",
        "name": "Progressive psychomotor deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-psychomotor-deterioration"
      },
      {
        "slug": "prolonged-neonatal-jaundice",
        "name": "Prolonged yellowing of skin in newborn",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice"
      },
      {
        "slug": "pseudobulbar-paralysis",
        "name": "Pseudobulbar paralysis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system",
          "abnormality-of-the-voice"
        ],
        "url": "https://dantelabs.com/traits/pseudobulbar-paralysis"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "resting-tremor",
        "name": "Resting tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/resting-tremor"
      },
      {
        "slug": "short-attention-span",
        "name": "Short attention span",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-attention-span"
      },
      {
        "slug": "somatic-sensory-dysfunction",
        "name": "Somatic sensory dysfunction",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/somatic-sensory-dysfunction"
      },
      {
        "slug": "spastic-paraparesis",
        "name": "Spastic paraparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/spastic-paraparesis"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "suicidal-ideation",
        "name": "Suicidal ideation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/suicidal-ideation"
      },
      {
        "slug": "tendon-xanthomatosis",
        "name": "Tendon xanthomatosis",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tendon-xanthomatosis"
      },
      {
        "slug": "thoracic-kyphosis",
        "name": "Thoracic kyphosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thoracic-kyphosis"
      },
      {
        "slug": "tuberous-xanthoma",
        "name": "Tuberous xanthoma",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/tuberous-xanthoma"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "xanthomatosis",
        "name": "Yellow bumps of fatty deposits on skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/xanthomatosis"
      }
    ],
    "related": [
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/arsa"
      },
      {
        "slug": "galc",
        "symbol": "GALC",
        "name": "galactosylceramidase",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/galc"
      },
      {
        "slug": "pex6",
        "symbol": "PEX6",
        "name": "peroxisomal biogenesis factor 6",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/pex6"
      },
      {
        "slug": "psap",
        "symbol": "PSAP",
        "name": "prosaposin",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/psap"
      },
      {
        "slug": "tpp1",
        "symbol": "TPP1",
        "name": "tripeptidyl peptidase 1",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/tpp1"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/aars1"
      },
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/aars2"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/abcd1"
      },
      {
        "slug": "abhd5",
        "symbol": "ABHD5",
        "name": "abhydrolase domain containing 5, lysophosphatidic acid acyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/abhd5"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "name": "alkaline ceramidase 3",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/acer3"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/adar"
      },
      {
        "slug": "aga",
        "symbol": "AGA",
        "name": "aspartylglucosaminidase",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/aga"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}