{
  "url": "https://dantelabs.com/hu/genes/sost",
  "gene": {
    "slug": "sost",
    "symbol": "SOST",
    "name": "sclerostin",
    "hgnc": "HGNC:13771",
    "summary": null,
    "location": "17q21.31",
    "locusType": "gene with protein product",
    "aliases": [
      "VBCH",
      "DAND6"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000167941",
    "entrezId": 50964,
    "omim": [
      "605740"
    ],
    "uniprot": [
      "Q9BQB4"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 43753738,
      "end": 43758791,
      "strand": "-",
      "ensemblTranscript": "ENST00000301691.3",
      "refseqTranscript": "NM_025237.3",
      "ensemblProtein": "ENSP00000301691.1",
      "refseqProtein": "NP_079513.1",
      "exons": [
        {
          "start": 43753738,
          "end": 43755763
        },
        {
          "start": 43758522,
          "end": 43758791
        }
      ],
      "cds": {
        "start": 43755342,
        "end": 43758741
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 41831099,
      "end": 41836156,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 43256265,
      "end": 44256264,
      "genes": [
        {
          "symbol": "CCDC200",
          "ensemblId": "ENSG00000236383",
          "biotype": "protein_coding",
          "start": 43216941,
          "end": 43305397,
          "strand": "-",
          "slug": "ccdc200"
        },
        {
          "symbol": "ARL4D",
          "ensemblId": "ENSG00000175906",
          "biotype": "protein_coding",
          "start": 43398150,
          "end": 43408660,
          "strand": "+",
          "slug": "arl4d"
        },
        {
          "symbol": "DHX8",
          "ensemblId": "ENSG00000067596",
          "biotype": "protein_coding",
          "start": 43483865,
          "end": 43610338,
          "strand": "+",
          "slug": "dhx8"
        },
        {
          "symbol": "ETV4",
          "ensemblId": "ENSG00000175832",
          "biotype": "protein_coding",
          "start": 43527841,
          "end": 43579620,
          "strand": "-",
          "slug": "etv4"
        },
        {
          "symbol": "MEOX1",
          "ensemblId": "ENSG00000005102",
          "biotype": "protein_coding",
          "start": 43640072,
          "end": 43661929,
          "strand": "-",
          "slug": "meox1"
        },
        {
          "symbol": "DUSP3",
          "ensemblId": "ENSG00000108861",
          "biotype": "protein_coding",
          "start": 43763629,
          "end": 43779000,
          "strand": "-",
          "slug": "dusp3"
        },
        {
          "symbol": "CFAP97D1",
          "ensemblId": "ENSG00000231256",
          "biotype": "protein_coding",
          "start": 43780426,
          "end": 43787620,
          "strand": "+",
          "slug": "cfap97d1"
        },
        {
          "symbol": "MPP3",
          "ensemblId": "ENSG00000161647",
          "biotype": "protein_coding",
          "start": 43800795,
          "end": 43833203,
          "strand": "-",
          "slug": "mpp3"
        },
        {
          "symbol": "CD300LG",
          "ensemblId": "ENSG00000161649",
          "biotype": "protein_coding",
          "start": 43847114,
          "end": 43863639,
          "strand": "+",
          "slug": "cd300lg"
        },
        {
          "symbol": "MPP2",
          "ensemblId": "ENSG00000108852",
          "biotype": "protein_coding",
          "start": 43875352,
          "end": 43909711,
          "strand": "-",
          "slug": "mpp2"
        },
        {
          "symbol": "PPY",
          "ensemblId": "ENSG00000108849",
          "biotype": "protein_coding",
          "start": 43940804,
          "end": 43952444,
          "strand": "-",
          "slug": "ppy"
        },
        {
          "symbol": "PYY",
          "ensemblId": "ENSG00000131096",
          "biotype": "protein_coding",
          "start": 43952733,
          "end": 44004469,
          "strand": "-",
          "slug": "pyy"
        },
        {
          "symbol": "NAGS",
          "ensemblId": "ENSG00000161653",
          "biotype": "protein_coding",
          "start": 44004581,
          "end": 44011213,
          "strand": "+",
          "slug": "nags"
        },
        {
          "symbol": "TMEM101",
          "ensemblId": "ENSG00000091947",
          "biotype": "protein_coding",
          "start": 44008986,
          "end": 44023946,
          "strand": "-",
          "slug": "tmem101"
        },
        {
          "symbol": "LSM12",
          "ensemblId": "ENSG00000161654",
          "biotype": "protein_coding",
          "start": 44033931,
          "end": 44067619,
          "strand": "-",
          "slug": "lsm12"
        },
        {
          "symbol": "G6PC3",
          "ensemblId": "ENSG00000141349",
          "biotype": "protein_coding",
          "start": 44070620,
          "end": 44094678,
          "strand": "+",
          "slug": "g6pc3"
        },
        {
          "symbol": "HDAC5",
          "ensemblId": "ENSG00000108840",
          "biotype": "protein_coding",
          "start": 44076746,
          "end": 44123702,
          "strand": "-",
          "slug": "hdac5"
        },
        {
          "symbol": "HROB",
          "ensemblId": "ENSG00000125319",
          "biotype": "protein_coding",
          "start": 44141903,
          "end": 44162481,
          "strand": "+",
          "slug": "hrob"
        },
        {
          "symbol": "ASB16",
          "ensemblId": "ENSG00000161664",
          "biotype": "protein_coding",
          "start": 44170447,
          "end": 44179373,
          "strand": "+",
          "slug": "asb16"
        },
        {
          "symbol": "TMUB2",
          "ensemblId": "ENSG00000168591",
          "biotype": "protein_coding",
          "start": 44186955,
          "end": 44191931,
          "strand": "+",
          "slug": "tmub2"
        },
        {
          "symbol": "ATXN7L3",
          "ensemblId": "ENSG00000087152",
          "biotype": "protein_coding",
          "start": 44191804,
          "end": 44200961,
          "strand": "-",
          "slug": "atxn7l3"
        },
        {
          "symbol": "UBTF",
          "ensemblId": "ENSG00000108312",
          "biotype": "protein_coding",
          "start": 44205033,
          "end": 44221626,
          "strand": "-",
          "slug": "ubtf"
        },
        {
          "symbol": "SLC4A1",
          "ensemblId": "ENSG00000004939",
          "biotype": "protein_coding",
          "start": 44248390,
          "end": 44268162,
          "strand": "-",
          "slug": "slc4a1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "sclerosing-bone-dysplasias",
        "name": "Sclerosing Bone Dysplasias (High Bone Mass)",
        "diseases": [
          {
            "mondoId": "MONDO:0017838",
            "name": "Sclerosteosis",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "A progressive bone overgrowth condition caused by SOST or LRP4 variants, with skull thickening, cranial nerve compression and often fused fingers.",
            "management": null,
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/sclerosing-bone-dysplasias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-clavicle-morphology",
        "name": "Abnormal collarbone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-clavicle-morphology"
      },
      {
        "slug": "abnormal-cortical-bone-morphology",
        "name": "Abnormal cortical bone morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cortical-bone-morphology"
      },
      {
        "slug": "tooth-malposition",
        "name": "Abnormal dental position",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tooth-malposition"
      },
      {
        "slug": "fingernail-dysplasia",
        "name": "Abnormal fingernail development",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fingernail-dysplasia"
      },
      {
        "slug": "abnormal-pelvic-girdle-bone-morphology",
        "name": "Abnormal shape of pelvic girdle bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-pelvic-girdle-bone-morphology"
      },
      {
        "slug": "abnormality-of-the-nose",
        "name": "Abnormality of the nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nose"
      },
      {
        "slug": "abnormal-rib-morphology",
        "name": "Abnormality of the ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-rib-morphology"
      },
      {
        "slug": "nail-dysplasia",
        "name": "Atypical nail growth",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nail-dysplasia"
      },
      {
        "slug": "deviation-of-finger",
        "name": "Atypical position of finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/deviation-of-finger"
      },
      {
        "slug": "dental-malocclusion",
        "name": "Bad bite",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/dental-malocclusion"
      },
      {
        "slug": "facial-palsy",
        "name": "Bell's palsy",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/facial-palsy"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "mandibular-prognathia",
        "name": "Big lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mandibular-prognathia"
      },
      {
        "slug": "large-sella-turcica",
        "name": "Big sella turcica",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/large-sella-turcica"
      },
      {
        "slug": "blurred-vision",
        "name": "Blurred vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/blurred-vision"
      },
      {
        "slug": "concave-nasal-ridge",
        "name": "Boxer's nasal deformity",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/concave-nasal-ridge"
      },
      {
        "slug": "broad-clavicle",
        "name": "Broad collarbone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/broad-clavicle"
      },
      {
        "slug": "broad-ribs",
        "name": "Broad ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/broad-ribs"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "cortical-sclerosis",
        "name": "Cortical sclerosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cortical-sclerosis"
      },
      {
        "slug": "cortically-dense-long-tubular-bones",
        "name": "Cortically dense long tubular bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/cortically-dense-long-tubular-bones"
      },
      {
        "slug": "cranial-nerve-paralysis",
        "name": "Cranial nerve paralysis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cranial-nerve-paralysis"
      },
      {
        "slug": "craniofacial-osteosclerosis",
        "name": "Craniofacial osteosclerosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/craniofacial-osteosclerosis"
      },
      {
        "slug": "curved-distal-phalanges-of-the-hand",
        "name": "Curved outermost finger bone of the hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/curved-distal-phalanges-of-the-hand"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "elevated-circulating-parathyroid-hormone-level",
        "name": "Elevated circulating parathyroid hormone level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-parathyroid-hormone-level"
      },
      {
        "slug": "elevated-circulating-pinp-concentration",
        "name": "Elevated circulating PINP concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-pinp-concentration"
      },
      {
        "slug": "craniofacial-hyperostosis",
        "name": "Enlargement of craniofacial bones",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/craniofacial-hyperostosis"
      },
      {
        "slug": "cranial-hyperostosis",
        "name": "Enlargement of skull bones",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cranial-hyperostosis"
      },
      {
        "slug": "facial-diplegia",
        "name": "Facial diplegia",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/facial-diplegia"
      },
      {
        "slug": "facial-palsy-secondary-to-cranial-hyperostosis",
        "name": "Facial palsy secondary to cranial hyperostosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/facial-palsy-secondary-to-cranial-hyperostosis"
      },
      {
        "slug": "finger-syndactyly",
        "name": "Finger syndactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/finger-syndactyly"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "overgrowth",
        "name": "General overgrowth",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/overgrowth"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "diaphyseal-sclerosis",
        "name": "Increased bone density in shaft of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/diaphyseal-sclerosis"
      },
      {
        "slug": "generalized-osteosclerosis",
        "name": "Increased bone density in skeletal bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-osteosclerosis"
      },
      {
        "slug": "increased-bone-mineral-density",
        "name": "Increased bone mineral density",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-bone-mineral-density"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "esotropia",
        "name": "Inward turning cross eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/esotropia"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "large-face",
        "name": "Large face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/large-face"
      },
      {
        "slug": "constriction-of-peripheral-visual-field",
        "name": "Limited peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field"
      },
      {
        "slug": "irregular-menstruation",
        "name": "Menstrual irregularity",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/irregular-menstruation"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "stenosis-of-the-external-auditory-canal",
        "name": "Narrow ear canal",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stenosis-of-the-external-auditory-canal"
      },
      {
        "slug": "choanal-stenosis",
        "name": "Narrowing of the rear opening of the nasal cavity",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/choanal-stenosis"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-atrophy-from-cranial-nerve-compression",
        "name": "Optic atrophy from cranial nerve compression",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/optic-atrophy-from-cranial-nerve-compression"
      },
      {
        "slug": "papilledema",
        "name": "Papilledema",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/papilledema"
      },
      {
        "slug": "progressive-visual-loss",
        "name": "Progressive loss of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/progressive-visual-loss"
      },
      {
        "slug": "prominent-supraorbital-ridges",
        "name": "Prominent brow",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prominent-supraorbital-ridges"
      },
      {
        "slug": "increased-intracranial-pressure",
        "name": "Rise in pressure inside skull",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/increased-intracranial-pressure"
      },
      {
        "slug": "sclerotic-scapulae",
        "name": "Sclerotic scapulae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/sclerotic-scapulae"
      },
      {
        "slug": "sclerotic-vertebral-endplates",
        "name": "Sclerotic vertebral endplates",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sclerotic-vertebral-endplates"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "sudden-death",
        "name": "Sudden death",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/sudden-death"
      },
      {
        "slug": "tall-stature",
        "name": "Tall stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tall-stature"
      },
      {
        "slug": "thickened-cortex-of-long-bones",
        "name": "Thickened cortex of long bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/thickened-cortex-of-long-bones"
      },
      {
        "slug": "thickened-ribs",
        "name": "Thickened ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/thickened-ribs"
      },
      {
        "slug": "diaphyseal-undertubulation",
        "name": "Thickening of shaft or central part of long bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/diaphyseal-undertubulation"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/visual-loss"
      },
      {
        "slug": "2-3-finger-cutaneous-syndactyly",
        "name": "Webbed 2nd-3rd fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/2-3-finger-cutaneous-syndactyly"
      },
      {
        "slug": "syndactyly",
        "name": "Webbed fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/syndactyly"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "malar-flattening",
        "name": "Zygomatic flattening",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/malar-flattening"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}