{
  "url": "https://dantelabs.com/fr/genes/slc2a10",
  "gene": {
    "slug": "slc2a10",
    "symbol": "SLC2A10",
    "name": "solute carrier family 2 member 10",
    "hgnc": "HGNC:13444",
    "summary": null,
    "location": "20q13.12",
    "locusType": "gene with protein product",
    "aliases": [
      "GLUT10",
      "GLUT-10"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000197496",
    "entrezId": 81031,
    "omim": [
      "606145"
    ],
    "uniprot": [
      "O95528"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 46709649,
      "end": 46736347,
      "strand": "+",
      "ensemblTranscript": "ENST00000359271.4",
      "refseqTranscript": "NM_030777.4",
      "ensemblProtein": "ENSP00000352216.2",
      "refseqProtein": "NP_110404.1",
      "exons": [
        {
          "start": 46709649,
          "end": 46709740
        },
        {
          "start": 46725041,
          "end": 46726324
        },
        {
          "start": 46726864,
          "end": 46726986
        },
        {
          "start": 46729353,
          "end": 46729488
        },
        {
          "start": 46733756,
          "end": 46736347
        }
      ],
      "cds": {
        "start": 46709737,
        "end": 46733834
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 45338126,
      "end": 45364965,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 46222998,
      "end": 47222997,
      "genes": [
        {
          "symbol": "CDH22",
          "ensemblId": "ENSG00000149654",
          "biotype": "protein_coding",
          "start": 46173737,
          "end": 46309009,
          "strand": "-",
          "slug": "cdh22"
        },
        {
          "symbol": "SLC35H1",
          "ensemblId": "ENSG00000080189",
          "biotype": "protein_coding",
          "start": 46345980,
          "end": 46364460,
          "strand": "-",
          "slug": "slc35h1"
        },
        {
          "symbol": "ELMO2",
          "ensemblId": "ENSG00000062598",
          "biotype": "protein_coding",
          "start": 46366045,
          "end": 46432985,
          "strand": "-",
          "slug": "elmo2"
        },
        {
          "symbol": "ZNF840P",
          "ensemblId": "ENSG00000184617",
          "biotype": "protein_coding",
          "start": 46459441,
          "end": 46495558,
          "strand": "+",
          "slug": "znf840p"
        },
        {
          "symbol": "ZNF334",
          "ensemblId": "ENSG00000198185",
          "biotype": "protein_coding",
          "start": 46499630,
          "end": 46513596,
          "strand": "-",
          "slug": "znf334"
        },
        {
          "symbol": "OCSTAMP",
          "ensemblId": "ENSG00000149635",
          "biotype": "protein_coding",
          "start": 46540946,
          "end": 46550654,
          "strand": "-",
          "slug": "ocstamp"
        },
        {
          "symbol": "SLC13A3",
          "ensemblId": "ENSG00000158296",
          "biotype": "protein_coding",
          "start": 46557823,
          "end": 46684467,
          "strand": "-",
          "slug": "slc13a3"
        },
        {
          "symbol": "TP53RK",
          "ensemblId": "ENSG00000172315",
          "biotype": "protein_coding",
          "start": 46684344,
          "end": 46689664,
          "strand": "-",
          "slug": "tp53rk"
        },
        {
          "symbol": "EYA2",
          "ensemblId": "ENSG00000064655",
          "biotype": "protein_coding",
          "start": 46894587,
          "end": 47188844,
          "strand": "+",
          "slug": "eya2"
        },
        {
          "symbol": "ZMYND8",
          "ensemblId": "ENSG00000101040",
          "biotype": "protein_coding",
          "start": 47209214,
          "end": 47357806,
          "strand": "-",
          "slug": "zmynd8"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "cutis-laxa",
        "name": "Cutis laxa",
        "diseases": [
          {
            "mondoId": "MONDO:0016175",
            "name": "Cutis laxa",
            "genes": 16,
            "inheritance": null,
            "description": "La cutis laxa (CL) est une maladie héréditaire ou acquise du tissu conjonctif caractérisée par une peau ridée, excédentaire, affaissée et inélastique, associée à des anomalies squelettiques et développementales et, dans certains cas, à une atteinte systémique sévère. Plusieurs formes héréditaires différentes de CL ont été décrites, se distinguant par leur mode de transmission génétique ainsi que par l'étendue de l'atteinte des organes internes, les anomalies associées et la sévérité de la maladie.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/cutis-laxa"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-thrombosis",
        "name": "Abnormal blood clot",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/abnormal-thrombosis"
      },
      {
        "slug": "abnormal-carotid-artery-morphology",
        "name": "Abnormal carotid artery morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-carotid-artery-morphology"
      },
      {
        "slug": "hip-dysplasia",
        "name": "Abnormal formation of the hip",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hip-dysplasia"
      },
      {
        "slug": "abnormal-myocardium-morphology",
        "name": "Abnormal myocardium morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-myocardium-morphology"
      },
      {
        "slug": "abnormal-zygomatic-bone-morphology",
        "name": "Abnormality of the cheekbone",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-zygomatic-bone-morphology"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "vascular-dilatation",
        "name": "Aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/vascular-dilatation"
      },
      {
        "slug": "aortic-regurgitation",
        "name": "Aortic regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/aortic-regurgitation"
      },
      {
        "slug": "aortic-tortuosity",
        "name": "Aortic tortuosity",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aortic-tortuosity"
      },
      {
        "slug": "astigmatism",
        "name": "Astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/astigmatism"
      },
      {
        "slug": "avascular-necrosis-of-the-capital-femoral-epiphysis",
        "name": "Avascular necrosis of the capital femoral epiphysis",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/avascular-necrosis-of-the-capital-femoral-epiphysis"
      },
      {
        "slug": "convex-nasal-ridge",
        "name": "Beaked nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/convex-nasal-ridge"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "bruising-susceptibility",
        "name": "Bruising susceptibility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "slug": "aortic-aneurysm",
        "name": "Bulge in wall of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aortic-aneurysm"
      },
      {
        "slug": "aortic-root-aneurysm",
        "name": "Bulge in wall of root of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aortic-root-aneurysm"
      },
      {
        "slug": "keratoconus",
        "name": "Bulging cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/keratoconus"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "cardiorespiratory-arrest",
        "name": "Cardiorespiratory arrest",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiorespiratory-arrest"
      },
      {
        "slug": "carotid-artery-dissection",
        "name": "Carotid artery dissection",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/carotid-artery-dissection"
      },
      {
        "slug": "median-cleft-palate",
        "name": "Central cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/median-cleft-palate"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "congenital-diaphragmatic-hernia",
        "name": "Congenital diaphragmatic hernia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congenital-diaphragmatic-hernia"
      },
      {
        "slug": "coxa-valga",
        "name": "Coxa valga",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coxa-valga"
      },
      {
        "slug": "coxa-vara",
        "name": "Coxa vara",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coxa-vara"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "craniosynostosis",
        "name": "Deformity of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/craniosynostosis"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "femoral-hernia",
        "name": "Femoral hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/femoral-hernia"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-arterial-tortuosity",
        "name": "Generalized twisted arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-arterial-tortuosity"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "cutis-laxa",
        "name": "Hanging skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cutis-laxa"
      },
      {
        "slug": "myocardial-infarction",
        "name": "Heart attack",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myocardial-infarction"
      },
      {
        "slug": "cardiac-arrest",
        "name": "Heart stops beating",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiac-arrest"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "hip-dislocation",
        "name": "Hip dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hip-dislocation"
      },
      {
        "slug": "hyperextensible-skin",
        "name": "Hyperelastic skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperextensible-skin"
      },
      {
        "slug": "myocarditis",
        "name": "Inflammation of heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myocarditis"
      },
      {
        "slug": "esophagitis",
        "name": "Inflammation of the esophagus",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/esophagitis"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "ischemic-stroke",
        "name": "Ischemic stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ischemic-stroke"
      },
      {
        "slug": "keratoglobus",
        "name": "Keratoglobus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/keratoglobus"
      },
      {
        "slug": "macrotia",
        "name": "Large ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrotia"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "long-face",
        "name": "Long face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/long-face"
      },
      {
        "slug": "long-palm",
        "name": "Long palm",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/long-palm"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "arachnodactyly",
        "name": "Long slender fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arachnodactyly"
      },
      {
        "slug": "redundant-skin",
        "name": "Loose redundant skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/redundant-skin"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "blepharophimosis",
        "name": "Narrow opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blepharophimosis"
      },
      {
        "slug": "arterial-stenosis",
        "name": "Narrowing of an artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arterial-stenosis"
      },
      {
        "slug": "aortic-valve-stenosis",
        "name": "Narrowing of aortic valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aortic-valve-stenosis"
      },
      {
        "slug": "pulmonary-artery-stenosis",
        "name": "Narrowing of lung artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-artery-stenosis"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "progeroid-facial-appearance",
        "name": "Premature aged appearance",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progeroid-facial-appearance"
      },
      {
        "slug": "prematurely-aged-appearance",
        "name": "Prematurely aged appearance",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prematurely-aged-appearance"
      },
      {
        "slug": "pyloric-stenosis",
        "name": "Pyloric stenosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pyloric-stenosis"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "rocker-bottom-foot",
        "name": "Rocker bottom foot",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rocker-bottom-foot"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "short-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "short-palpebral-fissure",
        "name": "Short opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-palpebral-fissure"
      },
      {
        "slug": "soft-skin",
        "name": "Soft skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/soft-skin"
      },
      {
        "slug": "soft-doughy-skin",
        "name": "Soft, doughy skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/soft-doughy-skin"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "hiatus-hernia",
        "name": "Stomach hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hiatus-hernia"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      },
      {
        "slug": "aortic-dissection",
        "name": "Tear in inner wall of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aortic-dissection"
      },
      {
        "slug": "telangiectases-of-the-cheeks",
        "name": "Telangiectases of the cheeks",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/telangiectases-of-the-cheeks"
      },
      {
        "slug": "telangiectasia-of-the-skin",
        "name": "Telangiectasia of the skin",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/telangiectasia-of-the-skin"
      },
      {
        "slug": "thin-skin",
        "name": "Thin skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-skin"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "ventricular-hypertrophy",
        "name": "Ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/ventricular-hypertrophy"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "malar-flattening",
        "name": "Zygomatic flattening",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/malar-flattening"
      }
    ],
    "related": [
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/aldh18a1"
      },
      {
        "slug": "atp6v0a2",
        "symbol": "ATP6V0A2",
        "name": "ATPase H+ transporting V0 subunit a2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atp6v0a2"
      },
      {
        "slug": "atp6v1a",
        "symbol": "ATP6V1A",
        "name": "ATPase H+ transporting V1 subunit A",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atp6v1a"
      },
      {
        "slug": "atp6v1e1",
        "symbol": "ATP6V1E1",
        "name": "ATPase H+ transporting V1 subunit E1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atp6v1e1"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "name": "ATPase copper transporting alpha",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atp7a"
      },
      {
        "slug": "efemp1",
        "symbol": "EFEMP1",
        "name": "EGF-like fibulin extracellular matrix protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/efemp1"
      },
      {
        "slug": "efemp2",
        "symbol": "EFEMP2",
        "name": "EGF-like fibulin extracellular matrix protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/efemp2"
      },
      {
        "slug": "eln",
        "symbol": "ELN",
        "name": "elastin",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/eln"
      },
      {
        "slug": "emilin1",
        "symbol": "EMILIN1",
        "name": "elastin microfibril interfacer 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/emilin1"
      },
      {
        "slug": "fbln5",
        "symbol": "FBLN5",
        "name": "fibulin 5",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/fbln5"
      },
      {
        "slug": "gorab",
        "symbol": "GORAB",
        "name": "golgin, RAB6 interacting",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/gorab"
      },
      {
        "slug": "ltbp1",
        "symbol": "LTBP1",
        "name": "latent transforming growth factor beta binding protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ltbp1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}