{
  "url": "https://dantelabs.com/tr/genes/xylt2",
  "gene": {
    "slug": "xylt2",
    "symbol": "XYLT2",
    "name": "xylosyltransferase 2",
    "hgnc": "HGNC:15517",
    "summary": null,
    "location": "17q21.33",
    "locusType": "gene with protein product",
    "aliases": [
      "XT-II",
      "PXYLT2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000015532",
    "entrezId": 64132,
    "omim": [
      "608125"
    ],
    "uniprot": [
      "Q9H1B5"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 50346126,
      "end": 50361185,
      "strand": "+",
      "ensemblTranscript": "ENST00000017003.7",
      "refseqTranscript": "NM_022167.4",
      "ensemblProtein": "ENSP00000017003.2",
      "refseqProtein": "NP_071450.2",
      "exons": [
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      ],
      "cds": {
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        "end": 50360291
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 48423453,
      "end": 48440499,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
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      "end": 50853655,
      "genes": [
        {
          "symbol": "DLX4",
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          "end": 49974959,
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        },
        {
          "symbol": "DLX3",
          "ensemblId": "ENSG00000064195",
          "biotype": "protein_coding",
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          "end": 49995224,
          "strand": "-",
          "slug": "dlx3"
        },
        {
          "symbol": "ITGA3",
          "ensemblId": "ENSG00000005884",
          "biotype": "protein_coding",
          "start": 50055968,
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          "strand": "+",
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        },
        {
          "symbol": "PDK2",
          "ensemblId": "ENSG00000005882",
          "biotype": "protein_coding",
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          "end": 50120276,
          "strand": "+",
          "slug": "pdk2"
        },
        {
          "symbol": "SAMD14",
          "ensemblId": "ENSG00000167100",
          "biotype": "protein_coding",
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          "end": 50130160,
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          "slug": "samd14"
        },
        {
          "symbol": "PPP1R9B",
          "ensemblId": "ENSG00000108819",
          "biotype": "protein_coding",
          "start": 50133732,
          "end": 50151020,
          "strand": "-",
          "slug": "ppp1r9b"
        },
        {
          "symbol": "SGCA",
          "ensemblId": "ENSG00000108823",
          "biotype": "protein_coding",
          "start": 50164214,
          "end": 50175935,
          "strand": "+",
          "slug": "sgca"
        },
        {
          "symbol": "COL1A1",
          "ensemblId": "ENSG00000108821",
          "biotype": "protein_coding",
          "start": 50184101,
          "end": 50201704,
          "strand": "-",
          "slug": "col1a1"
        },
        {
          "symbol": "TMEM92",
          "ensemblId": "ENSG00000167105",
          "biotype": "protein_coding",
          "start": 50271406,
          "end": 50281916,
          "strand": "+",
          "slug": "tmem92"
        },
        {
          "symbol": "MRPL27",
          "ensemblId": "ENSG00000108826",
          "biotype": "protein_coding",
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          "end": 50373207,
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        },
        {
          "symbol": "EME1",
          "ensemblId": "ENSG00000154920",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "eme1"
        },
        {
          "symbol": "LRRC59",
          "ensemblId": "ENSG00000108829",
          "biotype": "protein_coding",
          "start": 50375059,
          "end": 50398227,
          "strand": "-",
          "slug": "lrrc59"
        },
        {
          "symbol": "ACSF2",
          "ensemblId": "ENSG00000167107",
          "biotype": "protein_coding",
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          "slug": "acsf2"
        },
        {
          "symbol": "CHAD",
          "ensemblId": "ENSG00000136457",
          "biotype": "protein_coding",
          "start": 50464478,
          "end": 50468976,
          "strand": "-",
          "slug": "chad"
        },
        {
          "symbol": "RSAD1",
          "ensemblId": "ENSG00000136444",
          "biotype": "protein_coding",
          "start": 50478770,
          "end": 50486371,
          "strand": "+",
          "slug": "rsad1"
        },
        {
          "symbol": "MYCBPAP",
          "ensemblId": "ENSG00000136449",
          "biotype": "protein_coding",
          "start": 50508409,
          "end": 50531501,
          "strand": "+",
          "slug": "mycbpap"
        },
        {
          "symbol": "EPN3",
          "ensemblId": "ENSG00000049283",
          "biotype": "protein_coding",
          "start": 50532543,
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          "strand": "+",
          "slug": "epn3"
        },
        {
          "symbol": "SPATA20",
          "ensemblId": "ENSG00000006282",
          "biotype": "protein_coding",
          "start": 50543058,
          "end": 50558366,
          "strand": "+",
          "slug": "spata20"
        },
        {
          "symbol": "CACNA1G",
          "ensemblId": "ENSG00000006283",
          "biotype": "protein_coding",
          "start": 50560715,
          "end": 50627474,
          "strand": "+",
          "slug": "cacna1g"
        },
        {
          "symbol": "ABCC3",
          "ensemblId": "ENSG00000108846",
          "biotype": "protein_coding",
          "start": 50634609,
          "end": 50692631,
          "strand": "+",
          "slug": "abcc3"
        },
        {
          "symbol": "ANKRD40",
          "ensemblId": "ENSG00000154945",
          "biotype": "protein_coding",
          "start": 50693197,
          "end": 50707920,
          "strand": "-",
          "slug": "ankrd40"
        },
        {
          "symbol": "LUC7L3",
          "ensemblId": "ENSG00000108848",
          "biotype": "protein_coding",
          "start": 50719565,
          "end": 50756219,
          "strand": "+",
          "slug": "luc7l3"
        },
        {
          "symbol": "ANKRD40CL",
          "ensemblId": "ENSG00000167117",
          "biotype": "protein_coding",
          "start": 50760960,
          "end": 50767570,
          "strand": "-",
          "slug": "ankrd40cl"
        },
        {
          "symbol": "WFIKKN2",
          "ensemblId": "ENSG00000173714",
          "biotype": "protein_coding",
          "start": 50834650,
          "end": 50842353,
          "strand": "+",
          "slug": "wfikkn2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "osteogenesis-imperfecta",
        "name": "Osteogenesis Imperfecta",
        "diseases": [
          {
            "mondoId": "MONDO:0019019",
            "name": "Osteogenesis Imperfecta",
            "genes": 34,
            "inheritance": null,
            "description": "Kolayca kırılan kırılgan kemiklere neden olan, sıklıkla mavi sklera, işitme kaybı ve diş sorunlarıyla birlikte görülen, kalıtsal bağ dokusu bozukluklarından oluşan bir grup.",
            "management": "Siklik IV bisfosfonatlar (pamidronat, zoledronat); uzun kemiklerin ortopedik çivilenmesi (rodding); fizik tedavi; denosumab (çocukluk çağı OI'sinde klinik kullanımda); romosozumab (geliştirme aşamasında); işitme takibi; dentinogenezis imperfekta için diş tedavisi yönetimi",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/osteogenesis-imperfecta"
      },
      {
        "slug": "vitreoretinopathy",
        "name": "Vitreoretinopati",
        "diseases": [
          {
            "mondoId": "MONDO:0011604",
            "name": "Spondilo-Oküler Sendrom",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Spondilo-oküler sendrom, yoğun katarakt ve retina dekolmanı ile birlikte yaygın osteoporoz ve platispondili ile seyreden, omurga ve göz bulgularının çok nadir görülen bir birlikteliğidir. Kısa boyun, büyük baş ve belirgin kaşlar dahil hafif kraniyofasiyal dismorfizm bildirilmiştir.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/vitreoretinopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-antihelix-morphology",
        "name": "Abnormal antihelix morphology",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-antihelix-morphology"
      },
      {
        "slug": "abnormal-intervertebral-disk-morphology",
        "name": "Abnormal intervertebral disk morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-intervertebral-disk-morphology"
      },
      {
        "slug": "abnormal-eyebrow-morphology",
        "name": "Abnormality of the eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-eyebrow-morphology"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-lens",
        "name": "Absent/small lens",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-lens"
      },
      {
        "slug": "accelerated-atherosclerosis",
        "name": "Accelerated plaque build-up in arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/accelerated-atherosclerosis"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "angina-pectoris",
        "name": "Angina pectoris",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/angina-pectoris"
      },
      {
        "slug": "angioid-streaks",
        "name": "Angioid streaks",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/angioid-streaks"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "choroidal-neovascularization",
        "name": "Choroidal neovascularization",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/choroidal-neovascularization"
      },
      {
        "slug": "civatte-bodies",
        "name": "Civatte bodies",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/civatte-bodies"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "vertebral-compression-fracture",
        "name": "Compression fracture of a vertebral body",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/vertebral-compression-fracture"
      },
      {
        "slug": "decreased-body-weight",
        "name": "Decreased body weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-body-weight"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "decreased-dlco",
        "name": "Decreased DLCO",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-dlco"
      },
      {
        "slug": "facial-hypotonia",
        "name": "Decreased facial muscle tone",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/facial-hypotonia"
      },
      {
        "slug": "thin-vermilion-border",
        "name": "Decreased volume of lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thin-vermilion-border"
      },
      {
        "slug": "disproportionate-short-trunk-short-stature",
        "name": "Disproportionate short-trunked short stature",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/disproportionate-short-trunk-short-stature"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "duodenal-ulcer",
        "name": "Duodenal ulcer",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/duodenal-ulcer"
      },
      {
        "slug": "dysplastic-aortic-valve",
        "name": "Dysplastic aortic valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysplastic-aortic-valve"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "femur-fracture",
        "name": "Femur fracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/femur-fracture"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "gastrointestinal-hemorrhage",
        "name": "Gastrointestinal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage"
      },
      {
        "slug": "cutis-laxa",
        "name": "Hanging skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cutis-laxa"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "hyperextensible-skin",
        "name": "Hyperelastic skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperextensible-skin"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "intermittent-claudication",
        "name": "Intermittent claudication",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intermittent-claudication"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "amblyopia",
        "name": "Lazy eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/amblyopia"
      },
      {
        "slug": "iris-hypopigmentation",
        "name": "Light eye color",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/iris-hypopigmentation"
      },
      {
        "slug": "long-fingers",
        "name": "Long fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/long-fingers"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "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": "long-toe",
        "name": "Long toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/long-toe"
      },
      {
        "slug": "low-posterior-hairline",
        "name": "Low hairline at back of neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-posterior-hairline"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "macular-degeneration",
        "name": "Macular degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macular-degeneration"
      },
      {
        "slug": "mitral-stenosis",
        "name": "Mitral stenosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/mitral-stenosis"
      },
      {
        "slug": "mitral-valve-prolapse",
        "name": "Mitral valve prolapse",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mitral-valve-prolapse"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "optic-disc-drusen",
        "name": "Optic disc drusen",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-disc-drusen"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "overlapping-toe",
        "name": "Overlapping toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/overlapping-toe"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "preauricular-pit",
        "name": "Pit in front of the ear",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/preauricular-pit"
      },
      {
        "slug": "coronary-artery-atherosclerosis",
        "name": "Plaque build-up in arteries supplying blood to heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/coronary-artery-atherosclerosis"
      },
      {
        "slug": "posterior-subcapsular-cataract",
        "name": "Posterior subcapsular cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posterior-subcapsular-cataract"
      },
      {
        "slug": "renovascular-hypertension",
        "name": "Renovascular hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renovascular-hypertension"
      },
      {
        "slug": "restrictive-cardiomyopathy",
        "name": "Restrictive cardiomyopathy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/restrictive-cardiomyopathy"
      },
      {
        "slug": "retinal-hemorrhage",
        "name": "Retinal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-hemorrhage"
      },
      {
        "slug": "retinal-detachment",
        "name": "Retinal detachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/retinal-detachment"
      },
      {
        "slug": "retinal-peau-d-orange",
        "name": "Retinal peau d'orange",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retinal-peau-d-orange"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "shield-chest",
        "name": "Shield chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/shield-chest"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "lymphedema",
        "name": "Swelling caused by excess lymph fluid under skin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lymphedema"
      },
      {
        "slug": "thickened-helices",
        "name": "Thickened helices",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thickened-helices"
      },
      {
        "slug": "thin-bony-cortex",
        "name": "Thin bony cortex",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-bony-cortex"
      },
      {
        "slug": "thoracic-kyphosis",
        "name": "Thoracic kyphosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thoracic-kyphosis"
      },
      {
        "slug": "unilateral-cryptorchidism",
        "name": "Unilateral cryptorchidism",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unilateral-cryptorchidism"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unsteady-gait"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-loss"
      },
      {
        "slug": "weak-pulse",
        "name": "Weak pulse",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/weak-pulse"
      },
      {
        "slug": "webbed-neck",
        "name": "Webbed neck",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/webbed-neck"
      },
      {
        "slug": "white-oral-mucosal-macule",
        "name": "White oral mucosal macule",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/white-oral-mucosal-macule"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "yellow-papule",
        "name": "Yellow papule",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/yellow-papule"
      }
    ],
    "related": [
      {
        "slug": "ano5",
        "symbol": "ANO5",
        "name": "anoctamin 5",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ano5"
      },
      {
        "slug": "atp6v0a2",
        "symbol": "ATP6V0A2",
        "name": "ATPase H+ transporting V0 subunit a2",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/atp6v0a2"
      },
      {
        "slug": "bmp1",
        "symbol": "BMP1",
        "name": "bone morphogenetic protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/bmp1"
      },
      {
        "slug": "col1a1",
        "symbol": "COL1A1",
        "name": "collagen type I alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/col1a1"
      },
      {
        "slug": "col1a2",
        "symbol": "COL1A2",
        "name": "collagen type I alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/col1a2"
      },
      {
        "slug": "creb3l1",
        "symbol": "CREB3L1",
        "name": "cAMP responsive element binding protein 3 like 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/creb3l1"
      },
      {
        "slug": "crtap",
        "symbol": "CRTAP",
        "name": "cartilage associated protein",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/crtap"
      },
      {
        "slug": "fkbp10",
        "symbol": "FKBP10",
        "name": "FKBP prolyl isomerase 10",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/fkbp10"
      },
      {
        "slug": "gorab",
        "symbol": "GORAB",
        "name": "golgin, RAB6 interacting",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/gorab"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "name": "interferon induced with helicase C domain 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ifih1"
      },
      {
        "slug": "ifitm5",
        "symbol": "IFITM5",
        "name": "interferon induced transmembrane protein 5",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ifitm5"
      },
      {
        "slug": "kdelr2",
        "symbol": "KDELR2",
        "name": "KDEL endoplasmic reticulum protein retention receptor 2",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/kdelr2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}