{
  "url": "https://dantelabs.com/fr/genes/cyp27a1",
  "gene": {
    "slug": "cyp27a1",
    "symbol": "CYP27A1",
    "name": "cytochrome P450 family 27 subfamily A member 1",
    "hgnc": "HGNC:2605",
    "summary": null,
    "location": "2q35",
    "locusType": "gene with protein product",
    "aliases": [
      "CTX",
      "CP27"
    ],
    "previousSymbols": [
      "CYP27"
    ],
    "ensemblId": "ENSG00000135929",
    "entrezId": 1593,
    "omim": [
      "606530"
    ],
    "uniprot": [
      "Q02318"
    ],
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      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
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      "end": 218815293,
      "strand": "+",
      "ensemblTranscript": "ENST00000258415.9",
      "refseqTranscript": "NM_000784.4",
      "ensemblProtein": "ENSP00000258415.4",
      "refseqProtein": "NP_000775.1",
      "exons": [
        {
          "start": 218782147,
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    },
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      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
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      "end": 219680016,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
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        {
          "symbol": "PNKD",
          "ensemblId": "ENSG00000127838",
          "biotype": "protein_coding",
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          "end": 218347057,
          "strand": "+",
          "slug": "pnkd"
        },
        {
          "symbol": "CATIP",
          "ensemblId": "ENSG00000158428",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "catip"
        },
        {
          "symbol": "SLC11A1",
          "ensemblId": "ENSG00000018280",
          "biotype": "protein_coding",
          "start": 218382006,
          "end": 218396906,
          "strand": "+",
          "slug": "slc11a1"
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        {
          "symbol": "CTDSP1",
          "ensemblId": "ENSG00000144579",
          "biotype": "protein_coding",
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          "strand": "+",
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        {
          "symbol": "VIL1",
          "ensemblId": "ENSG00000127831",
          "biotype": "protein_coding",
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          "end": 218453295,
          "strand": "+",
          "slug": "vil1"
        },
        {
          "symbol": "USP37",
          "ensemblId": "ENSG00000135913",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "usp37"
        },
        {
          "symbol": "CNOT9",
          "ensemblId": "ENSG00000144580",
          "biotype": "protein_coding",
          "start": 218568575,
          "end": 218597080,
          "strand": "+",
          "slug": "cnot9"
        },
        {
          "symbol": "PLCD4",
          "ensemblId": "ENSG00000115556",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "plcd4"
        },
        {
          "symbol": "ZNF142",
          "ensemblId": "ENSG00000115568",
          "biotype": "protein_coding",
          "start": 218633329,
          "end": 218659655,
          "strand": "-",
          "slug": "znf142"
        },
        {
          "symbol": "BCS1L",
          "ensemblId": "ENSG00000074582",
          "biotype": "protein_coding",
          "start": 218658764,
          "end": 218668759,
          "strand": "+",
          "slug": "bcs1l"
        },
        {
          "symbol": "RNF25",
          "ensemblId": "ENSG00000163481",
          "biotype": "protein_coding",
          "start": 218662081,
          "end": 218672009,
          "strand": "-",
          "slug": "rnf25"
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        {
          "symbol": "STK36",
          "ensemblId": "ENSG00000163482",
          "biotype": "protein_coding",
          "start": 218672027,
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          "strand": "+",
          "slug": "stk36"
        },
        {
          "symbol": "TTLL4",
          "ensemblId": "ENSG00000135912",
          "biotype": "protein_coding",
          "start": 218710773,
          "end": 218759724,
          "strand": "+",
          "slug": "ttll4"
        },
        {
          "symbol": "PRKAG3",
          "ensemblId": "ENSG00000115592",
          "biotype": "protein_coding",
          "start": 218819050,
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          "strand": "-",
          "slug": "prkag3"
        },
        {
          "symbol": "WNT6",
          "ensemblId": "ENSG00000115596",
          "biotype": "protein_coding",
          "start": 218859795,
          "end": 218874233,
          "strand": "+",
          "slug": "wnt6"
        },
        {
          "symbol": "WNT10A",
          "ensemblId": "ENSG00000135925",
          "biotype": "protein_coding",
          "start": 218880852,
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          "strand": "+",
          "slug": "wnt10a"
        },
        {
          "symbol": "CDK5R2",
          "ensemblId": "ENSG00000171450",
          "biotype": "protein_coding",
          "start": 218959666,
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          "strand": "+",
          "slug": "cdk5r2"
        },
        {
          "symbol": "FEV",
          "ensemblId": "ENSG00000163497",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "fev"
        },
        {
          "symbol": "CRYBA2",
          "ensemblId": "ENSG00000163499",
          "biotype": "protein_coding",
          "start": 218990189,
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          "strand": "-",
          "slug": "cryba2"
        },
        {
          "symbol": "CFAP65",
          "ensemblId": "ENSG00000181378",
          "biotype": "protein_coding",
          "start": 219002846,
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          "strand": "-",
          "slug": "cfap65"
        },
        {
          "symbol": "IHH",
          "ensemblId": "ENSG00000163501",
          "biotype": "protein_coding",
          "start": 219054424,
          "end": 219061064,
          "strand": "-",
          "slug": "ihh"
        },
        {
          "symbol": "NHEJ1",
          "ensemblId": "ENSG00000187736",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "nhej1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000280537",
          "biotype": "protein_coding",
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          "end": 219170827,
          "strand": "-"
        },
        {
          "symbol": "SLC23A3",
          "ensemblId": "ENSG00000213901",
          "biotype": "protein_coding",
          "start": 219161465,
          "end": 219170095,
          "strand": "-",
          "slug": "slc23a3"
        },
        {
          "symbol": "CNPPD1",
          "ensemblId": "ENSG00000115649",
          "biotype": "protein_coding",
          "start": 219170704,
          "end": 219182664,
          "strand": "-",
          "slug": "cnppd1"
        },
        {
          "symbol": "RETREG2",
          "ensemblId": "ENSG00000144567",
          "biotype": "protein_coding",
          "start": 219176225,
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          "strand": "+",
          "slug": "retreg2"
        },
        {
          "symbol": "ZFAND2B",
          "ensemblId": "ENSG00000158552",
          "biotype": "protein_coding",
          "start": 219195237,
          "end": 219209651,
          "strand": "+",
          "slug": "zfand2b"
        },
        {
          "symbol": "ABCB6",
          "ensemblId": "ENSG00000115657",
          "biotype": "protein_coding",
          "start": 219209765,
          "end": 219219012,
          "strand": "-",
          "slug": "abcb6"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000284820",
          "biotype": "protein_coding",
          "start": 219209772,
          "end": 219222738,
          "strand": "-"
        },
        {
          "symbol": "ATG9A",
          "ensemblId": "ENSG00000198925",
          "biotype": "protein_coding",
          "start": 219219380,
          "end": 219230383,
          "strand": "-",
          "slug": "atg9a"
        },
        {
          "symbol": "ANKZF1",
          "ensemblId": "ENSG00000163516",
          "biotype": "protein_coding",
          "start": 219229769,
          "end": 219236679,
          "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": "Xanthomatose cérébrotendineuse",
        "diseases": [
          {
            "mondoId": "MONDO:0008948",
            "name": "Xanthomatose cérébrotendineuse",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Un déficit en stérol 27-hydroxylase entraîne, dès l'enfance, des diarrhées chroniques et des cataractes, des xanthomes tendineux, puis une ataxie, une spasticité, un déclin cognitif et des modifications de la substance blanche.",
            "management": "Un traitement par acide chénodésoxycholique peut prévenir ou ralentir l'évolution de la maladie neurologique, surtout lorsqu'il est débuté tôt.",
            "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/fr/conditions/cerebrotendinous-xanthomatosis"
      },
      {
        "slug": "autosomal-recessive-cerebellar-ataxias",
        "name": "Ataxies cérébelleuses autosomiques récessives (dont CANVAS et AVED)",
        "diseases": [
          {
            "mondoId": "MONDO:0015244",
            "name": "Ataxie cérébelleuse autosomique récessive",
            "genes": 57,
            "inheritance": "autosomal-recessive",
            "description": "Un groupe d'ataxies à transmission récessive causées par des variants biallèliques dans des gènes tels que RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 et SYNE1.",
            "management": "L'ataxie avec déficit en vitamine E (TTPA) peut être traitée par des suppléments de vitamine E ; les autres formes sont prises en charge par la kinésithérapie et des soins visant les symptômes, et un dépistage de porteur peut être proposé aux apparentés.",
            "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/fr/conditions/autosomal-recessive-cerebellar-ataxias"
      },
      {
        "slug": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Maladies neurodégénératives héréditaires",
        "diseases": [
          {
            "mondoId": "MONDO:0024237",
            "name": "Maladie neurodégénérative liée à KIF5A",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Causée par des modifications d'une copie du gène KIF5A, qui code une protéine motrice dotée d'une queue de liaison à sa cargaison. Différents types de modifications entraînent différentes affections : la paraplégie spastique héréditaire de type 10, une forme axonale de la maladie de Charcot-Marie-Tooth et la sclérose latérale amyotrophique (SLA).",
            "management": "La prise en charge est symptomatique et dépend de la forme clinique ; elle comprend la kinésithérapie, des médicaments contre la spasticité et un suivi pluridisciplinaire de la SLA. Chaque enfant d'une personne atteinte a une chance sur 2 d'hériter de la modification ; le conseil génétique aide les familles à comprendre ce risque.",
            "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/fr/conditions/inherited-neurodegenerative-disorders-selected-genes"
      },
      {
        "slug": "leukodystrophy",
        "name": "Autres leucodystrophies héréditaires",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Leucodystrophie (autres types et types non précisés)",
            "genes": 80,
            "inheritance": null,
            "description": "Maladies héréditaires qui altèrent ou empêchent la formation normale de la myéline, la substance blanche du cerveau et de la moelle épinière. Selon le gène concerné, les différents types suivent une hérédité autosomique récessive, autosomique dominante ou liée à l'X.",
            "management": "Connaître la cause génétique précise peut mettre fin à une recherche diagnostique, guider les soins de soutien et la surveillance, indiquer s'il existe un traitement spécifique et permettre le dépistage des apparentés.",
            "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/fr/conditions/leukodystrophy"
      },
      {
        "slug": "lysosomal-storage-disease",
        "name": "Maladie de surcharge lysosomale",
        "diseases": [
          {
            "mondoId": "MONDO:0002561",
            "name": "Maladie de surcharge lysosomale (autres types et types non précisés)",
            "genes": 59,
            "inheritance": null,
            "description": "Couvre les maladies de surcharge lysosomale sans rapport dédié, telles que la maladie de Farber et d'autres troubles liés à ASAH1, les déficits en prosaposine (PSAP), le déficit en sulfatases multiples, les mucopolysaccharidoses de types IX et X, et la maladie de Dorfman-Chanarin ; le mode de transmission varie selon le sous-type, le plus souvent autosomique récessif.",
            "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/fr/conditions/lysosomal-storage-disease"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Neuropathies périphériques héréditaires rares",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Neuropathie périphérique héréditaire",
            "genes": 233,
            "inheritance": null,
            "description": "Causée par des modifications dans l'un des nombreux gènes nécessaires au maintien en bon état des longues fibres nerveuses. Dans ce rapport, ces gènes comprennent IGHMBP2 et PLEKHG5, dont la transmission est récessive.",
            "management": "La kinésithérapie, les orthèses et l'ergothérapie aident à préserver la mobilité, avec une chirurgie des déformations du pied si nécessaire. Certaines formes nécessitent une surveillance respiratoire. Le conseil génétique oriente le dépistage familial selon le mode de transmission du gène concerné.",
            "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/fr/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "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": 4,
        "url": "https://dantelabs.com/fr/genes/arsa"
      },
      {
        "slug": "galc",
        "symbol": "GALC",
        "name": "galactosylceramidase",
        "shared": 4,
        "url": "https://dantelabs.com/fr/genes/galc"
      },
      {
        "slug": "pex6",
        "symbol": "PEX6",
        "name": "peroxisomal biogenesis factor 6",
        "shared": 4,
        "url": "https://dantelabs.com/fr/genes/pex6"
      },
      {
        "slug": "psap",
        "symbol": "PSAP",
        "name": "prosaposin",
        "shared": 4,
        "url": "https://dantelabs.com/fr/genes/psap"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/aars1"
      },
      {
        "slug": "coq8a",
        "symbol": "COQ8A",
        "name": "coenzyme Q8A",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/coq8a"
      },
      {
        "slug": "ears2",
        "symbol": "EARS2",
        "name": "glutamyl-tRNA synthetase 2, mitochondrial",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/ears2"
      },
      {
        "slug": "hexa",
        "symbol": "HEXA",
        "name": "hexosaminidase subunit alpha",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/hexa"
      },
      {
        "slug": "hexb",
        "symbol": "HEXB",
        "name": "hexosaminidase subunit beta",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/hexb"
      },
      {
        "slug": "mttp",
        "symbol": "MTTP",
        "name": "microsomal triglyceride transfer protein",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/mttp"
      },
      {
        "slug": "pex1",
        "symbol": "PEX1",
        "name": "peroxisomal biogenesis factor 1",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/pex1"
      },
      {
        "slug": "pex10",
        "symbol": "PEX10",
        "name": "peroxisomal biogenesis factor 10",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/pex10"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}