{
  "url": "https://dantelabs.com/es/genes/b4galt7",
  "gene": {
    "slug": "b4galt7",
    "symbol": "B4GALT7",
    "name": "beta-1,4-galactosyltransferase 7",
    "hgnc": "HGNC:930",
    "summary": null,
    "location": "5q35.3",
    "locusType": "gene with protein product",
    "aliases": [
      "XGALT-1",
      "beta4Gal-T7"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000027847",
    "entrezId": 11285,
    "omim": [
      "604327"
    ],
    "uniprot": [
      "Q9UBV7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 177600132,
      "end": 177610330,
      "strand": "+",
      "ensemblTranscript": "ENST00000029410.10",
      "refseqTranscript": "NM_007255.3",
      "ensemblProtein": "ENSP00000029410.5",
      "refseqProtein": "NP_009186.1",
      "exons": [
        {
          "start": 177600132,
          "end": 177600260
        },
        {
          "start": 177604179,
          "end": 177604541
        },
        {
          "start": 177607302,
          "end": 177607527
        },
        {
          "start": 177608539,
          "end": 177608622
        },
        {
          "start": 177608910,
          "end": 177609014
        },
        {
          "start": 177609540,
          "end": 177610330
        }
      ],
      "cds": {
        "start": 177600211,
        "end": 177609695
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 177027101,
      "end": 177037348,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 177105231,
      "end": 178105230,
      "genes": [
        {
          "symbol": "NSD1",
          "ensemblId": "ENSG00000165671",
          "biotype": "protein_coding",
          "start": 177131787,
          "end": 177300213,
          "strand": "+",
          "slug": "nsd1"
        },
        {
          "symbol": "RAB24",
          "ensemblId": "ENSG00000169228",
          "biotype": "protein_coding",
          "start": 177301198,
          "end": 177303766,
          "strand": "-",
          "slug": "rab24"
        },
        {
          "symbol": "MXD3",
          "ensemblId": "ENSG00000213347",
          "biotype": "protein_coding",
          "start": 177301461,
          "end": 177312757,
          "strand": "-",
          "slug": "mxd3"
        },
        {
          "symbol": "PRELID1",
          "ensemblId": "ENSG00000169230",
          "biotype": "protein_coding",
          "start": 177303787,
          "end": 177306958,
          "strand": "+",
          "slug": "prelid1"
        },
        {
          "symbol": "LMAN2",
          "ensemblId": "ENSG00000169223",
          "biotype": "protein_coding",
          "start": 177315805,
          "end": 177351840,
          "strand": "-",
          "slug": "lman2"
        },
        {
          "symbol": "RGS14",
          "ensemblId": "ENSG00000169220",
          "biotype": "protein_coding",
          "start": 177357654,
          "end": 177374390,
          "strand": "+",
          "slug": "rgs14"
        },
        {
          "symbol": "SLC34A1",
          "ensemblId": "ENSG00000131183",
          "biotype": "protein_coding",
          "start": 177379235,
          "end": 177398848,
          "strand": "+",
          "slug": "slc34a1"
        },
        {
          "symbol": "PFN3",
          "ensemblId": "ENSG00000196570",
          "biotype": "protein_coding",
          "start": 177400109,
          "end": 177400661,
          "strand": "-",
          "slug": "pfn3"
        },
        {
          "symbol": "F12",
          "ensemblId": "ENSG00000131187",
          "biotype": "protein_coding",
          "start": 177402133,
          "end": 177416583,
          "strand": "-",
          "slug": "f12"
        },
        {
          "symbol": "GRK6",
          "ensemblId": "ENSG00000198055",
          "biotype": "protein_coding",
          "start": 177403204,
          "end": 177442901,
          "strand": "+",
          "slug": "grk6"
        },
        {
          "symbol": "PRR7",
          "ensemblId": "ENSG00000131188",
          "biotype": "protein_coding",
          "start": 177446445,
          "end": 177456291,
          "strand": "+",
          "slug": "prr7"
        },
        {
          "symbol": "DBN1",
          "ensemblId": "ENSG00000113758",
          "biotype": "protein_coding",
          "start": 177456225,
          "end": 177474401,
          "strand": "-",
          "slug": "dbn1"
        },
        {
          "symbol": "PDLIM7",
          "ensemblId": "ENSG00000196923",
          "biotype": "protein_coding",
          "start": 177482838,
          "end": 177497664,
          "strand": "-",
          "slug": "pdlim7"
        },
        {
          "symbol": "DOK3",
          "ensemblId": "ENSG00000146094",
          "biotype": "protein_coding",
          "start": 177501888,
          "end": 177511274,
          "strand": "-",
          "slug": "dok3"
        },
        {
          "symbol": "DDX41",
          "ensemblId": "ENSG00000183258",
          "biotype": "protein_coding",
          "start": 177511569,
          "end": 177516979,
          "strand": "-",
          "slug": "ddx41"
        },
        {
          "symbol": "FAM193B",
          "ensemblId": "ENSG00000146067",
          "biotype": "protein_coding",
          "start": 177519788,
          "end": 177554601,
          "strand": "-",
          "slug": "fam193b"
        },
        {
          "symbol": "TMED9",
          "ensemblId": "ENSG00000184840",
          "biotype": "protein_coding",
          "start": 177592174,
          "end": 177597242,
          "strand": "+",
          "slug": "tmed9"
        },
        {
          "symbol": "FAM153A",
          "ensemblId": "ENSG00000170074",
          "biotype": "protein_coding",
          "start": 177707981,
          "end": 177784435,
          "strand": "-",
          "slug": "fam153a"
        },
        {
          "symbol": "PROP1",
          "ensemblId": "ENSG00000175325",
          "biotype": "protein_coding",
          "start": 177992235,
          "end": 177996242,
          "strand": "-",
          "slug": "prop1"
        },
        {
          "symbol": "FAM153CP",
          "ensemblId": "ENSG00000204677",
          "biotype": "protein_coding",
          "start": 178006348,
          "end": 178086529,
          "strand": "+",
          "slug": "fam153cp"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "ehlers-danlos-syndrome",
        "name": "Síndrome de Ehlers-Danlos",
        "diseases": [
          {
            "mondoId": "MONDO:0020066",
            "name": "Síndrome de Ehlers-Danlos",
            "genes": 20,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/es/conditions/ehlers-danlos-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "skeletal-dysplasia",
        "name": "Abnormal skeletal development",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-dysplasia"
      },
      {
        "slug": "abnormal-skin-pigmentation",
        "name": "Abnormal skin pigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-skin-pigmentation"
      },
      {
        "slug": "abnormal-primary-tooth-morphology",
        "name": "Abnormality of baby teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-primary-tooth-morphology"
      },
      {
        "slug": "absent-earlobe",
        "name": "Absent earlobe",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/absent-earlobe"
      },
      {
        "slug": "accelerated-skeletal-maturation",
        "name": "Advanced bone age",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/accelerated-skeletal-maturation"
      },
      {
        "slug": "atypical-scarring-of-skin",
        "name": "Atypical scarring of skin",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-scarring-of-skin"
      },
      {
        "slug": "genu-recurvatum",
        "name": "Back knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/genu-recurvatum"
      },
      {
        "slug": "bifid-uvula",
        "name": "Bifid uvula",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bifid-uvula"
      },
      {
        "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": "blue-sclerae",
        "name": "Blue outer white part of eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blue-sclerae"
      },
      {
        "slug": "bowing-of-the-long-bones",
        "name": "Bowing of the long bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/bowing-of-the-long-bones"
      },
      {
        "slug": "broad-forehead",
        "name": "Broad forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/broad-forehead"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "telecanthus",
        "name": "Corners of eye widely separated",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/telecanthus"
      },
      {
        "slug": "coxa-valga",
        "name": "Coxa valga",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/coxa-valga"
      },
      {
        "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": "dislocated-radial-head",
        "name": "Dislocated radial head",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dislocated-radial-head"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "hypermetropia",
        "name": "Farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypermetropia"
      },
      {
        "slug": "flared-metaphysis",
        "name": "Flared wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/flared-metaphysis"
      },
      {
        "slug": "flat-face",
        "name": "Flat face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/flat-face"
      },
      {
        "slug": "flat-forehead",
        "name": "Flat forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/flat-forehead"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "radioulnar-synostosis",
        "name": "Fused forearm bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/radioulnar-synostosis"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "cutis-laxa",
        "name": "Hanging skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cutis-laxa"
      },
      {
        "slug": "hyperextensible-skin",
        "name": "Hyperelastic skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperextensible-skin"
      },
      {
        "slug": "lipodystrophy",
        "name": "Inability to make and keep healthy fat tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lipodystrophy"
      },
      {
        "slug": "gingivitis",
        "name": "Inflamed gums",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gingivitis"
      },
      {
        "slug": "joint-dislocation",
        "name": "Joint dislocation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/joint-dislocation"
      },
      {
        "slug": "kyphoscoliosis",
        "name": "Kyphoscoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/kyphoscoliosis"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "arachnodactyly",
        "name": "Long slender fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arachnodactyly"
      },
      {
        "slug": "long-toe",
        "name": "Long toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/long-toe"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "mild-global-developmental-delay",
        "name": "Mild global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mild-global-developmental-delay"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "narrow-chest",
        "name": "Narrow chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/narrow-chest"
      },
      {
        "slug": "narrow-mouth",
        "name": "Narrow mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/narrow-mouth"
      },
      {
        "slug": "aortic-valve-stenosis",
        "name": "Narrowing of aortic valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aortic-valve-stenosis"
      },
      {
        "slug": "pulmonic-stenosis",
        "name": "Narrowing of pulmonic valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pulmonic-stenosis"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "palmoplantar-cutis-gyrata",
        "name": "Palmoplantar cutis gyrata",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/palmoplantar-cutis-gyrata"
      },
      {
        "slug": "phalangeal-dislocation",
        "name": "Phalangeal dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/phalangeal-dislocation"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "progeroid-facial-appearance",
        "name": "Premature aged appearance",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progeroid-facial-appearance"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "short-clavicles",
        "name": "Short collarbone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-clavicles"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "single-transverse-palmar-crease",
        "name": "Single transverse palmar crease",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/single-transverse-palmar-crease"
      },
      {
        "slug": "slender-toe",
        "name": "Slender toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/slender-toe"
      },
      {
        "slug": "small-face",
        "name": "Small face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/small-face"
      },
      {
        "slug": "sparse-eyebrow",
        "name": "Sparse eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-eyebrow"
      },
      {
        "slug": "sparse-eyelashes",
        "name": "Sparse eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-eyelashes"
      },
      {
        "slug": "sparse-scalp-hair",
        "name": "Sparse scalp hair",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-scalp-hair"
      },
      {
        "slug": "atrophic-scars",
        "name": "Sunken or indented skin due to damage",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atrophic-scars"
      },
      {
        "slug": "talipes-equinovalgus",
        "name": "Talipes equinovalgus",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/talipes-equinovalgus"
      },
      {
        "slug": "testicular-torsion",
        "name": "Testicular torsion",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/testicular-torsion"
      },
      {
        "slug": "thin-skin",
        "name": "Thin skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thin-skin"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "adamts2",
        "symbol": "ADAMTS2",
        "name": "ADAM metallopeptidase with thrombospondin type 1 motif 2",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/adamts2"
      },
      {
        "slug": "aebp1",
        "symbol": "AEBP1",
        "name": "AE binding protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/aebp1"
      },
      {
        "slug": "b3galt6",
        "symbol": "B3GALT6",
        "name": "beta-1,3-galactosyltransferase 6",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/b3galt6"
      },
      {
        "slug": "c1r",
        "symbol": "C1R",
        "name": "complement C1r",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/c1r"
      },
      {
        "slug": "c1s",
        "symbol": "C1S",
        "name": "complement C1s",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/c1s"
      },
      {
        "slug": "chst14",
        "symbol": "CHST14",
        "name": "carbohydrate sulfotransferase 14",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/chst14"
      },
      {
        "slug": "col12a1",
        "symbol": "COL12A1",
        "name": "collagen type XII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/col12a1"
      },
      {
        "slug": "col1a1",
        "symbol": "COL1A1",
        "name": "collagen type I alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/col1a1"
      },
      {
        "slug": "col1a2",
        "symbol": "COL1A2",
        "name": "collagen type I alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/col1a2"
      },
      {
        "slug": "col3a1",
        "symbol": "COL3A1",
        "name": "collagen type III alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/col3a1"
      },
      {
        "slug": "col5a1",
        "symbol": "COL5A1",
        "name": "collagen type V alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/col5a1"
      },
      {
        "slug": "col5a2",
        "symbol": "COL5A2",
        "name": "collagen type V alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/col5a2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}