{
  "url": "https://dantelabs.com/da/genes/fbln5",
  "gene": {
    "slug": "fbln5",
    "symbol": "FBLN5",
    "name": "fibulin 5",
    "hgnc": "HGNC:3602",
    "summary": null,
    "location": "14q32.12",
    "locusType": "gene with protein product",
    "aliases": [
      "EVEC",
      "UP50",
      "DANCE",
      "ARMD3"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000140092",
    "entrezId": 10516,
    "omim": [
      "604580"
    ],
    "uniprot": [
      "Q9UBX5"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "14",
      "start": 91869411,
      "end": 91947694,
      "strand": "-",
      "ensemblTranscript": "ENST00000342058.9",
      "refseqTranscript": "NM_006329.4",
      "ensemblProtein": "ENSP00000345008.4",
      "refseqProtein": "NP_006320.2",
      "exons": [
        {
          "start": 91869411,
          "end": 91870385
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        {
          "start": 91877487,
          "end": 91877682
        },
        {
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        },
        {
          "start": 91882954,
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        },
        {
          "start": 91887193,
          "end": 91887312
        },
        {
          "start": 91891221,
          "end": 91891337
        },
        {
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        },
        {
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          "end": 91937201
        },
        {
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        },
        {
          "start": 91942907,
          "end": 91942961
        },
        {
          "start": 91947213,
          "end": 91947694
        }
      ],
      "cds": {
        "start": 91870224,
        "end": 91947229
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
      "start": 92335756,
      "end": 92414331,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 91408553,
      "end": 92408552,
      "genes": [
        {
          "symbol": "CCDC88C",
          "ensemblId": "ENSG00000015133",
          "biotype": "protein_coding",
          "start": 91271323,
          "end": 91417890,
          "strand": "-",
          "slug": "ccdc88c"
        },
        {
          "symbol": "PPP4R3A",
          "ensemblId": "ENSG00000100796",
          "biotype": "protein_coding",
          "start": 91457139,
          "end": 91510556,
          "strand": "-",
          "slug": "ppp4r3a"
        },
        {
          "symbol": "CATSPERB",
          "ensemblId": "ENSG00000133962",
          "biotype": "protein_coding",
          "start": 91580696,
          "end": 91780707,
          "strand": "-",
          "slug": "catsperb"
        },
        {
          "symbol": "TC2N",
          "ensemblId": "ENSG00000165929",
          "biotype": "protein_coding",
          "start": 91779746,
          "end": 91867536,
          "strand": "-",
          "slug": "tc2n"
        },
        {
          "symbol": "TRIP11",
          "ensemblId": "ENSG00000100815",
          "biotype": "protein_coding",
          "start": 91965991,
          "end": 92040902,
          "strand": "-",
          "slug": "trip11"
        },
        {
          "symbol": "ATXN3",
          "ensemblId": "ENSG00000066427",
          "biotype": "protein_coding",
          "start": 92044482,
          "end": 92106625,
          "strand": "-",
          "slug": "atxn3"
        },
        {
          "symbol": "NDUFB1",
          "ensemblId": "ENSG00000183648",
          "biotype": "protein_coding",
          "start": 92115820,
          "end": 92121978,
          "strand": "-",
          "slug": "ndufb1"
        },
        {
          "symbol": "CPSF2",
          "ensemblId": "ENSG00000165934",
          "biotype": "protein_coding",
          "start": 92121512,
          "end": 92172145,
          "strand": "+",
          "slug": "cpsf2"
        },
        {
          "symbol": "SLC24A4",
          "ensemblId": "ENSG00000140090",
          "biotype": "protein_coding",
          "start": 92322581,
          "end": 92501481,
          "strand": "+",
          "slug": "slc24a4"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "cutis-laxa",
        "name": "Cutis Laxa",
        "diseases": [
          {
            "mondoId": "MONDO:0016175",
            "name": "Cutis Laxa",
            "genes": 16,
            "inheritance": null,
            "description": "Cutis laxa (CL) er en arvelig eller erhvervet bindevævssygdom, kendetegnet ved rynket, overskydende og slap uelastisk hud, forbundet med skelet- og udviklingsmæssige afvigelser og i nogle tilfælde med alvorlig involvering af kroppens organer. Flere forskellige former for arvelig CL er beskrevet, som skelnes ud fra arvegangen og forskelle i omfanget af indre organinvolvering, tilhørende afvigelser og sygdommens sværhedsgrad.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/cutis-laxa"
      },
      {
        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Charcot-Marie-Tooth-sygdom",
        "diseases": [
          {
            "mondoId": "MONDO:0015626",
            "name": "Charcot-Marie-Tooth sygdom",
            "genes": 62,
            "inheritance": null,
            "description": "En gruppe arvelige perifere neuropatier, der forårsager progressiv svaghed og tab af muskelmasse i de distale muskler samt nedsat følesans, hovedsagelig i fødder og hænder.",
            "management": "Genetisk rådgivning, undersøgelser tilpasset undertypen, fysioterapi, ortopædiske hjælpemidler, undgåelse af neurotoksiske lægemidler, genspecifikke kliniske forsøg og overvågning for tilhørende symptomer",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/da/conditions/charcot-marie-tooth-disease-type-1"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cardiac-ventricular-function",
        "name": "Abnormal cardiac ventricular function",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cardiac-ventricular-function"
      },
      {
        "slug": "abnormal-cardiovascular-system-morphology",
        "name": "Abnormal cardiovascular system morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology"
      },
      {
        "slug": "abnormal-curvature-of-the-vertebral-column",
        "name": "Abnormal curve of the backbone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-curvature-of-the-vertebral-column"
      },
      {
        "slug": "abnormal-cutaneous-elastic-fiber-morphology",
        "name": "Abnormal cutaneous elastic fiber morphology",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-cutaneous-elastic-fiber-morphology"
      },
      {
        "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": "abnormal-systemic-arterial-morphology",
        "name": "Abnormal systemic arterial morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-systemic-arterial-morphology"
      },
      {
        "slug": "abnormal-cheek-morphology",
        "name": "Abnormality of the cheek",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cheek-morphology"
      },
      {
        "slug": "abnormality-of-the-face",
        "name": "Abnormality of the face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-face"
      },
      {
        "slug": "abnormal-skull-morphology",
        "name": "Abnormality of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-skull-morphology"
      },
      {
        "slug": "abnormality-of-the-thoracic-cavity",
        "name": "Abnormality of the thoracic cavity",
        "systems": [],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-thoracic-cavity"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "unilateral-renal-agenesis",
        "name": "Absent kidney on one side",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/unilateral-renal-agenesis"
      },
      {
        "slug": "absent-patellar-reflexes",
        "name": "Absent knee jerk reflex",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-patellar-reflexes"
      },
      {
        "slug": "vascular-dilatation",
        "name": "Aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vascular-dilatation"
      },
      {
        "slug": "aortic-regurgitation",
        "name": "Aortic regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aortic-regurgitation"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "genu-recurvatum",
        "name": "Back knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/genu-recurvatum"
      },
      {
        "slug": "dermatochalasis",
        "name": "Baggy eyes",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dermatochalasis"
      },
      {
        "slug": "bladder-diverticulum",
        "name": "Bladder diverticulum",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bladder-diverticulum"
      },
      {
        "slug": "brisk-reflexes",
        "name": "Brisk reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brisk-reflexes"
      },
      {
        "slug": "broad-forehead",
        "name": "Broad forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/broad-forehead"
      },
      {
        "slug": "aortic-aneurysm",
        "name": "Bulge in wall of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aortic-aneurysm"
      },
      {
        "slug": "ascending-tubular-aorta-aneurysm",
        "name": "Bulging of wall of large artery located above heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/ascending-tubular-aorta-aneurysm"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "choroidal-neovascularization",
        "name": "Choroidal neovascularization",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/choroidal-neovascularization"
      },
      {
        "slug": "developmental-cataract",
        "name": "Clouding of the lens of the eye at birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/developmental-cataract"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "pneumothorax",
        "name": "Collapsed lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pneumothorax"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "decreased-patellar-reflex",
        "name": "Decreased knee jerk reflex",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-patellar-reflex"
      },
      {
        "slug": "decreased-nerve-conduction-velocity",
        "name": "Decreased nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-nerve-conduction-velocity"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "decreased-circulating-vitamin-d-concentration",
        "name": "Deficient in vitamin D",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-circulating-vitamin-d-concentration"
      },
      {
        "slug": "delayed-cranial-suture-closure",
        "name": "Delayed cranial suture closure",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-cranial-suture-closure"
      },
      {
        "slug": "dermal-translucency",
        "name": "Dermal translucency",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dermal-translucency"
      },
      {
        "slug": "dilatation-of-the-ventricular-cavity",
        "name": "Dilatation of the ventricular cavity",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dilatation-of-the-ventricular-cavity"
      },
      {
        "slug": "distal-lower-limb-amyotrophy",
        "name": "Distal lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-lower-limb-amyotrophy"
      },
      {
        "slug": "distal-lower-limb-muscle-weakness",
        "name": "Distal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "distal-upper-limb-amyotrophy",
        "name": "Distal upper limb amyotrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-upper-limb-amyotrophy"
      },
      {
        "slug": "distal-upper-limb-muscle-weakness",
        "name": "Distal upper limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-upper-limb-muscle-weakness"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "drusen",
        "name": "Drusen",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/drusen"
      },
      {
        "slug": "emphysema",
        "name": "Emphysema",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/emphysema"
      },
      {
        "slug": "wormian-bones",
        "name": "Extra bones within cranial sutures",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/wormian-bones"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "fragmented-elastic-fibers-in-the-dermis",
        "name": "Fragmented elastic fibers in the dermis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fragmented-elastic-fibers-in-the-dermis"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "overgrowth",
        "name": "General overgrowth",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/overgrowth"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "cutis-laxa",
        "name": "Hanging skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cutis-laxa"
      },
      {
        "slug": "hernia",
        "name": "Hernia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hernia"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "hip-dislocation",
        "name": "Hip dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hip-dislocation"
      },
      {
        "slug": "hyperextensible-skin",
        "name": "Hyperelastic skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperextensible-skin"
      },
      {
        "slug": "increased-number-of-skin-folds",
        "name": "Increased number of skin folds",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-number-of-skin-folds"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "adducted-thumb",
        "name": "Inward turned thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/adducted-thumb"
      },
      {
        "slug": "joint-subluxation",
        "name": "Joint subluxation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/joint-subluxation"
      },
      {
        "slug": "small-foramen-magnum",
        "name": "Little foramen magnum",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/small-foramen-magnum"
      },
      {
        "slug": "arachnodactyly",
        "name": "Long slender fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/arachnodactyly"
      },
      {
        "slug": "redundant-skin",
        "name": "Loose redundant skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/redundant-skin"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "macular-degeneration",
        "name": "Macular degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macular-degeneration"
      },
      {
        "slug": "mitral-regurgitation",
        "name": "Mitral regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mitral-regurgitation"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "multiple-bladder-diverticula",
        "name": "Multiple pouches in bladder wall",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/multiple-bladder-diverticula"
      },
      {
        "slug": "coarctation-of-aorta",
        "name": "Narrowing of aorta",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coarctation-of-aorta"
      },
      {
        "slug": "peripheral-pulmonary-artery-stenosis",
        "name": "Narrowing of peripheral lung artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-pulmonary-artery-stenosis"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "peripheral-axonal-neuropathy",
        "name": "Peripheral axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "premature-sagging-cheeks",
        "name": "Premature sagging cheeks",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-sagging-cheeks"
      },
      {
        "slug": "premature-skin-wrinkling",
        "name": "Premature skin wrinkling",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/premature-skin-wrinkling"
      },
      {
        "slug": "prematurely-aged-appearance",
        "name": "Prematurely aged appearance",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prematurely-aged-appearance"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "protruding-ear",
        "name": "Prominent ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/protruding-ear"
      },
      {
        "slug": "prominent-forehead",
        "name": "Prominent forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prominent-forehead"
      },
      {
        "slug": "pyelonephritis",
        "name": "Pyelonephritis",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pyelonephritis"
      },
      {
        "slug": "pyloric-stenosis",
        "name": "Pyloric stenosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pyloric-stenosis"
      },
      {
        "slug": "recurrent-pneumonia",
        "name": "Recurrent pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-pneumonia"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "redundant-neck-skin",
        "name": "Redundant neck skin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/redundant-neck-skin"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "small-bowel-diverticula",
        "name": "Small bowel diverticula",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/small-bowel-diverticula"
      },
      {
        "slug": "pathologic-fracture",
        "name": "Spontaneous fracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pathologic-fracture"
      },
      {
        "slug": "supravalvular-aortic-stenosis",
        "name": "Supravalvular aortic stenosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/supravalvular-aortic-stenosis"
      },
      {
        "slug": "talipes-calcaneovalgus",
        "name": "Talipes calcaneovalgus",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/talipes-calcaneovalgus"
      },
      {
        "slug": "lack-of-skin-elasticity",
        "name": "Tight skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lack-of-skin-elasticity"
      },
      {
        "slug": "triangular-face",
        "name": "Triangular face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/triangular-face"
      },
      {
        "slug": "vascular-tortuosity",
        "name": "Twisted blood vessels",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/vascular-tortuosity"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "unusual-bronchiolitis",
        "name": "Unusual bronchiolitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/unusual-bronchiolitis"
      },
      {
        "slug": "urethral-diverticulum",
        "name": "Urethral diverticulum",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urethral-diverticulum"
      },
      {
        "slug": "vesicoureteral-reflux",
        "name": "Vesicoureteral reflux",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vesicoureteral-reflux"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/aars1"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/aifm1"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/aldh18a1"
      },
      {
        "slug": "atp1a1",
        "symbol": "ATP1A1",
        "name": "ATPase Na+/K+ transporting subunit alpha 1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/atp1a1"
      },
      {
        "slug": "atp6v0a2",
        "symbol": "ATP6V0A2",
        "name": "ATPase H+ transporting V0 subunit a2",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/atp6v0a2"
      },
      {
        "slug": "atp6v1a",
        "symbol": "ATP6V1A",
        "name": "ATPase H+ transporting V1 subunit A",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/atp6v1a"
      },
      {
        "slug": "atp6v1e1",
        "symbol": "ATP6V1E1",
        "name": "ATPase H+ transporting V1 subunit E1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/atp6v1e1"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "name": "ATPase copper transporting alpha",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/atp7a"
      },
      {
        "slug": "cadm3",
        "symbol": "CADM3",
        "name": "cell adhesion molecule 3",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/cadm3"
      },
      {
        "slug": "cox6a1",
        "symbol": "COX6A1",
        "name": "cytochrome c oxidase subunit 6A1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/cox6a1"
      },
      {
        "slug": "dhtkd1",
        "symbol": "DHTKD1",
        "name": "dehydrogenase E1 and transketolase domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/dhtkd1"
      },
      {
        "slug": "dhx9",
        "symbol": "DHX9",
        "name": "DExH-box helicase 9",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/dhx9"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}