{
  "url": "https://dantelabs.com/de/genes/col11a1",
  "gene": {
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      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
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      "strand": "-"
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    "neighbourhood": {
      "release": "116",
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      "genes": [],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hearing-loss-and-deafness",
        "name": "Schwerhörigkeit und Gehörlosigkeit",
        "diseases": [
          {
            "mondoId": "MONDO:0019587",
            "name": "Autosomal-dominante nicht-syndromale Schwerhörigkeit",
            "genes": 39,
            "inheritance": "autosomal-dominant",
            "description": "Autosomal-dominante Form der nicht-syndromalen Gehörlosigkeit.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019497",
            "name": "Nicht-syndromaler genetischer Hörverlust",
            "genes": 97,
            "inheritance": null,
            "description": "Erblich bedingter Hörverlust ohne weitere medizinische Merkmale, einschließlich der häufigen rezessiven Formen, die durch GJB2, OTOF, SLC26A4, STRC und viele andere Gene verursacht werden, sowie dominante, X-chromosomal gebundene und mitochondriale Formen.",
            "management": "Die Kenntnis der genetischen Ursache kann Entscheidungen über Hörunterstützung und Cochlea-Implantate, die Eignung für Gentherapie-Studien (zum Beispiel bei OTOF) sowie die genetische Familienberatung leiten.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/de/conditions/hearing-loss-and-deafness"
      },
      {
        "slug": "vitreoretinopathy",
        "name": "Vitreoretinopathie",
        "diseases": [
          {
            "mondoId": "MONDO:0007949",
            "name": "Marshall-Syndrom",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Eine dominant vererbte Erkrankung, die mit dem Stickler-Syndrom verwandt ist und durch Veränderungen in COL11A1 verursacht wird. Sie geht mit hochgradiger Kurzsichtigkeit, einem Risiko für eine Netzhautablösung, Hörverlust und charakteristischen Gesichtszügen einher.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0020248",
            "name": "Vitreoretinale Degeneration",
            "genes": 21,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/conditions/vitreoretinopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-dentition",
        "name": "Abnormal dentition",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-dentition"
      },
      {
        "slug": "cerebral-calcification",
        "name": "Abnormal deposits of calcium in the brain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-calcification"
      },
      {
        "slug": "abnormal-diaphysis-morphology",
        "name": "Abnormal shape of shaft of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-diaphysis-morphology"
      },
      {
        "slug": "abnormal-vertebral-body-morphology",
        "name": "Abnormal vertebral body morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology"
      },
      {
        "slug": "abnormal-vitreous-humor-morphology",
        "name": "Abnormal vitreous humor morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-vitreous-humor-morphology"
      },
      {
        "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": "abnormal-metaphysis-morphology",
        "name": "Abnormality of the wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology"
      },
      {
        "slug": "abnormal-pinna-morphology",
        "name": "Abnormally shaped ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/abnormal-pinna-morphology"
      },
      {
        "slug": "absent-frontal-sinuses",
        "name": "Absent frontal sinuses",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/absent-frontal-sinuses"
      },
      {
        "slug": "angle-closure-glaucoma",
        "name": "Angle closure glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/angle-closure-glaucoma"
      },
      {
        "slug": "ankle-pain",
        "name": "Ankle pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ankle-pain"
      },
      {
        "slug": "anterior-rib-cupping",
        "name": "Anterior rib cupping",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/anterior-rib-cupping"
      },
      {
        "slug": "plagiocephaly",
        "name": "Asymmetry of the posterior head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/plagiocephaly"
      },
      {
        "slug": "bell-shaped-thorax",
        "name": "Bell-shaped thorax",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bell-shaped-thorax"
      },
      {
        "slug": "protuberant-abdomen",
        "name": "Belly sticks out",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/protuberant-abdomen"
      },
      {
        "slug": "bifid-uvula",
        "name": "Bifid uvula",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bifid-uvula"
      },
      {
        "slug": "femoral-bowing",
        "name": "Bowed thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/femoral-bowing"
      },
      {
        "slug": "radial-bowing",
        "name": "Bowing of outer large bone of the forearm",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/radial-bowing"
      },
      {
        "slug": "brachycephaly",
        "name": "Broad head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/brachycephaly"
      },
      {
        "slug": "broad-ischia",
        "name": "Broad ischia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/broad-ischia"
      },
      {
        "slug": "broad-long-bones",
        "name": "Broad long bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/broad-long-bones"
      },
      {
        "slug": "broad-ribs",
        "name": "Broad ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/broad-ribs"
      },
      {
        "slug": "metaphyseal-widening",
        "name": "Broad wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metaphyseal-widening"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "calcification-of-falx-cerebri",
        "name": "Calcification of falx cerebri",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/calcification-of-falx-cerebri"
      },
      {
        "slug": "hypoplasia-of-the-zygomatic-bone",
        "name": "Cheekbone underdevelopment",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-zygomatic-bone"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "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": "lens-luxation",
        "name": "Completely dislocated lens",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/lens-luxation"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "coxa-valga",
        "name": "Coxa valga",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/coxa-valga"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "clinodactyly-of-the-4th-finger",
        "name": "Curvature of ring finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-4th-finger"
      },
      {
        "slug": "ulnar-bowing",
        "name": "Curving of inner forearm bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/ulnar-bowing"
      },
      {
        "slug": "hypohidrosis",
        "name": "Decreased ability to sweat",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypohidrosis"
      },
      {
        "slug": "shallow-orbits",
        "name": "Decreased depth of eye sockets",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-eye",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/shallow-orbits"
      },
      {
        "slug": "hypoplasia-of-the-maxilla",
        "name": "Decreased size of maxilla",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-maxilla"
      },
      {
        "slug": "osteoarthritis",
        "name": "Degenerative joint disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteoarthritis"
      },
      {
        "slug": "degenerative-vitreoretinopathy",
        "name": "Degenerative vitreoretinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/degenerative-vitreoretinopathy"
      },
      {
        "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": "arthropathy",
        "name": "Disease of the joints",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/arthropathy"
      },
      {
        "slug": "rhizomelia",
        "name": "Disproportionately short upper portion of limb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system",
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/rhizomelia"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "dumbbell-shaped-long-bone",
        "name": "Dumbbell-shaped long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dumbbell-shaped-long-bone"
      },
      {
        "slug": "ectopia-lentis",
        "name": "Ectopia lentis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ectopia-lentis"
      },
      {
        "slug": "megalocornea",
        "name": "Enlarged cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/megalocornea"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "flat-face",
        "name": "Flat face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/flat-face"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "thick-lower-lip-vermilion",
        "name": "Full lower lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thick-lower-lip-vermilion"
      },
      {
        "slug": "thick-upper-lip-vermilion",
        "name": "Full upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thick-upper-lip-vermilion"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "hearing-abnormality",
        "name": "Hearing abnormality",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hearing-abnormality"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "high-narrow-palate",
        "name": "High, narrow palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-narrow-palate"
      },
      {
        "slug": "hydrops-fetalis",
        "name": "Hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/hydrops-fetalis"
      },
      {
        "slug": "hypoplastic-fetal-nasal-bone",
        "name": "Hypoplastic fetal nasal bone",
        "systems": [
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplastic-fetal-nasal-bone"
      },
      {
        "slug": "hypoplastic-frontal-sinuses",
        "name": "Hypoplastic frontal sinuses",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-frontal-sinuses"
      },
      {
        "slug": "hypoplastic-ischia",
        "name": "Hypoplastic ischia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplastic-ischia"
      },
      {
        "slug": "thickened-calvaria",
        "name": "Increased thickness of skull cap",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thickened-calvaria"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "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": "irregular-proximal-tibial-epiphyses",
        "name": "Irregular innermost shankbone end part",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/irregular-proximal-tibial-epiphyses"
      },
      {
        "slug": "irregular-distal-femoral-epiphysis",
        "name": "Irregular outermost thighbone end part",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/irregular-distal-femoral-epiphysis"
      },
      {
        "slug": "irregular-femoral-epiphysis",
        "name": "Irregular thighbone end part",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/irregular-femoral-epiphysis"
      },
      {
        "slug": "joint-contracture-of-the-hand",
        "name": "Joint contracture of the hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/joint-contracture-of-the-hand"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "knee-osteoarthritis",
        "name": "Knee osteoarthritis",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/knee-osteoarthritis"
      },
      {
        "slug": "knee-pain",
        "name": "Knee pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/knee-pain"
      },
      {
        "slug": "genu-valgum",
        "name": "Knock knees",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/genu-valgum"
      },
      {
        "slug": "amblyopia",
        "name": "Lazy eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/amblyopia"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "long-clavicle",
        "name": "Long collarbone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/long-clavicle"
      },
      {
        "slug": "long-fingers",
        "name": "Long fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/long-fingers"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "arachnodactyly",
        "name": "Long slender fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/arachnodactyly"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "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": "lumbar-hypolordosis",
        "name": "Lumbar hypolordosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lumbar-hypolordosis"
      },
      {
        "slug": "macrodontia-of-permanent-maxillary-central-incisor",
        "name": "Macrodontia of permanent maxillary central incisor",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/macrodontia-of-permanent-maxillary-central-incisor"
      },
      {
        "slug": "meningeal-calcification",
        "name": "Meningeal calcification",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/meningeal-calcification"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "narrow-chest",
        "name": "Narrow chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/narrow-chest"
      },
      {
        "slug": "narrow-greater-sciatic-notch",
        "name": "Narrow greater sciatic notch",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/narrow-greater-sciatic-notch"
      },
      {
        "slug": "narrow-mouth",
        "name": "Narrow mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/narrow-mouth"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "retinopathy",
        "name": "Noninflammatory retina disease",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinopathy"
      },
      {
        "slug": "omphalocele",
        "name": "Omphalocele",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/omphalocele"
      },
      {
        "slug": "patent-foramen-ovale",
        "name": "Patent foramen ovale",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/patent-foramen-ovale"
      },
      {
        "slug": "camptodactyly-of-finger",
        "name": "Permanent flexion of the finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/camptodactyly-of-finger"
      },
      {
        "slug": "camptodactyly",
        "name": "Permanent flexion of the finger or toe",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/camptodactyly"
      },
      {
        "slug": "pierre-robin-sequence",
        "name": "Pierre-Robin sequence",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pierre-robin-sequence"
      },
      {
        "slug": "posterior-rib-cupping",
        "name": "Posterior rib cupping",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/posterior-rib-cupping"
      },
      {
        "slug": "posterior-vertebral-hypoplasia",
        "name": "Posterior vertebral hypoplasia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/posterior-vertebral-hypoplasia"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "proportionate-short-stature",
        "name": "Proportionate short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proportionate-short-stature"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "slug": "remnants-of-the-hyaloid-vascular-system",
        "name": "Remnants of the hyaloid vascular system",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/remnants-of-the-hyaloid-vascular-system"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "retinal-detachment",
        "name": "Retinal detachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/retinal-detachment"
      },
      {
        "slug": "retinal-dysplasia",
        "name": "Retinal dysplasia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retinal-dysplasia"
      },
      {
        "slug": "glossoptosis",
        "name": "Retraction of the tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glossoptosis"
      },
      {
        "slug": "round-face",
        "name": "Round face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/round-face"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "high-myopia",
        "name": "Severe near sightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-myopia"
      },
      {
        "slug": "fibular-hypoplasia",
        "name": "Short calf bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/fibular-hypoplasia"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-foot",
        "name": "Short foot",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-foot"
      },
      {
        "slug": "short-long-bone",
        "name": "Short long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-long-bone"
      },
      {
        "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-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "short-palm",
        "name": "Short palm",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-palm"
      },
      {
        "slug": "short-ribs",
        "name": "Short ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-ribs"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "short-femur",
        "name": "Short thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-femur"
      },
      {
        "slug": "thoracic-hypoplasia",
        "name": "Small chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/thoracic-hypoplasia"
      },
      {
        "slug": "small-proximal-tibial-epiphyses",
        "name": "Small end part of innermost shankbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/small-proximal-tibial-epiphyses"
      },
      {
        "slug": "small-distal-femoral-epiphysis",
        "name": "Small end part of outermost thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/small-distal-femoral-epiphysis"
      },
      {
        "slug": "hypoplastic-fingernail",
        "name": "Small fingernail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-fingernail"
      },
      {
        "slug": "small-hand",
        "name": "Small hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/small-hand"
      },
      {
        "slug": "hypoplastic-scapulae",
        "name": "Small shoulder blade",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-scapulae"
      },
      {
        "slug": "hypoplastic-ilia",
        "name": "Small wings of the pelvic girdle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplastic-ilia"
      },
      {
        "slug": "micromelia",
        "name": "Smaller or shorter than typical limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micromelia"
      },
      {
        "slug": "sparse-eyebrow",
        "name": "Sparse eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sparse-eyebrow"
      },
      {
        "slug": "sparse-eyelashes",
        "name": "Sparse eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sparse-eyelashes"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "spondyloepiphyseal-dysplasia",
        "name": "Spondyloepiphyseal dysplasia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/spondyloepiphyseal-dysplasia"
      },
      {
        "slug": "thin-clavicle",
        "name": "Thin collarbone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/thin-clavicle"
      },
      {
        "slug": "thin-ribs",
        "name": "Thin ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/thin-ribs"
      },
      {
        "slug": "tympanic-membrane-hypermobility",
        "name": "Tympanic membrane hypermobility",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tympanic-membrane-hypermobility"
      },
      {
        "slug": "hypoplastic-toenails",
        "name": "Underdeveloped toenails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hypoplastic-toenails"
      },
      {
        "slug": "upper-airway-obstruction",
        "name": "Upper airway obstruction",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/upper-airway-obstruction"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "vitreoretinopathy",
        "name": "Vitreoretinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vitreoretinopathy"
      },
      {
        "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": "wide-tufts-of-distal-phalanges",
        "name": "Wide tips of outermost digital bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/wide-tufts-of-distal-phalanges"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "widely-patent-coronal-suture",
        "name": "Widely patent coronal suture",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/widely-patent-coronal-suture"
      },
      {
        "slug": "widely-patent-sagittal-suture",
        "name": "Widely patent sagittal suture",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/widely-patent-sagittal-suture"
      },
      {
        "slug": "wide-anterior-fontanel",
        "name": "Wider-than-typical soft spot of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/wide-anterior-fontanel"
      },
      {
        "slug": "malar-flattening",
        "name": "Zygomatic flattening",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/malar-flattening"
      }
    ],
    "related": [
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/actg1"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/atp2b2"
      },
      {
        "slug": "cd164",
        "symbol": "CD164",
        "name": "CD164 molecule",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/cd164"
      },
      {
        "slug": "ceacam16",
        "symbol": "CEACAM16",
        "name": "CEA cell adhesion molecule 16, tectorial membrane component",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/ceacam16"
      },
      {
        "slug": "coch",
        "symbol": "COCH",
        "name": "cochlin",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/coch"
      },
      {
        "slug": "col11a2",
        "symbol": "COL11A2",
        "name": "collagen type XI alpha 2 chain",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/col11a2"
      },
      {
        "slug": "diaph1",
        "symbol": "DIAPH1",
        "name": "diaphanous related formin 1",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/diaph1"
      },
      {
        "slug": "eya4",
        "symbol": "EYA4",
        "name": "EYA transcriptional coactivator and phosphatase 4",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/eya4"
      },
      {
        "slug": "gjb2",
        "symbol": "GJB2",
        "name": "gap junction protein beta 2",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/gjb2"
      },
      {
        "slug": "gjb6",
        "symbol": "GJB6",
        "name": "gap junction protein beta 6",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/gjb6"
      },
      {
        "slug": "greb1l",
        "symbol": "GREB1L",
        "name": "GREB1 like retinoic acid receptor coactivator",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/greb1l"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}