{
  "url": "https://dantelabs.com/ro/genes/evc2",
  "gene": {
    "slug": "evc2",
    "symbol": "EVC2",
    "name": "EvC ciliary complex subunit 2",
    "hgnc": "HGNC:19747",
    "summary": null,
    "location": "4p16.2",
    "locusType": "gene with protein product",
    "aliases": [
      "LBN"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000173040",
    "entrezId": 132884,
    "omim": [
      "607261"
    ],
    "uniprot": [
      "Q86UK5"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 5562439,
      "end": 5708559,
      "strand": "-",
      "ensemblTranscript": "ENST00000344408.10",
      "refseqTranscript": "NM_147127.5",
      "ensemblProtein": "ENSP00000342144.5",
      "refseqProtein": "NP_667338.3",
      "exons": [
        {
          "start": 5562439,
          "end": 5563115
        },
        {
          "start": 5565258,
          "end": 5565359
        },
        {
          "start": 5568444,
          "end": 5568640
        },
        {
          "start": 5574685,
          "end": 5574772
        },
        {
          "start": 5576240,
          "end": 5576454
        },
        {
          "start": 5584623,
          "end": 5584850
        },
        {
          "start": 5615422,
          "end": 5615544
        },
        {
          "start": 5618478,
          "end": 5618682
        },
        {
          "start": 5622537,
          "end": 5622991
        },
        {
          "start": 5625749,
          "end": 5625908
        },
        {
          "start": 5628559,
          "end": 5628734
        },
        {
          "start": 5631793,
          "end": 5632032
        },
        {
          "start": 5640514,
          "end": 5640838
        },
        {
          "start": 5663107,
          "end": 5663246
        },
        {
          "start": 5665515,
          "end": 5665649
        },
        {
          "start": 5681260,
          "end": 5681313
        },
        {
          "start": 5685370,
          "end": 5685479
        },
        {
          "start": 5689157,
          "end": 5689343
        },
        {
          "start": 5691265,
          "end": 5691333
        },
        {
          "start": 5694335,
          "end": 5694501
        },
        {
          "start": 5697593,
          "end": 5697647
        },
        {
          "start": 5708286,
          "end": 5708559
        }
      ],
      "cds": {
        "start": 5562848,
        "end": 5708513
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 5544499,
      "end": 5711275,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 5135499,
      "end": 6135498,
      "genes": [
        {
          "symbol": "STK32B",
          "ensemblId": "ENSG00000152953",
          "biotype": "protein_coding",
          "start": 5051400,
          "end": 5500994,
          "strand": "+",
          "slug": "stk32b"
        },
        {
          "symbol": "EVC",
          "ensemblId": "ENSG00000072840",
          "biotype": "protein_coding",
          "start": 5711172,
          "end": 5814305,
          "strand": "+",
          "slug": "evc"
        },
        {
          "symbol": "CRMP1",
          "ensemblId": "ENSG00000072832",
          "biotype": "protein_coding",
          "start": 5748084,
          "end": 5893086,
          "strand": "-",
          "slug": "crmp1"
        },
        {
          "symbol": "C4orf50",
          "ensemblId": "ENSG00000181215",
          "biotype": "protein_coding",
          "start": 5897373,
          "end": 6200596,
          "strand": "-",
          "slug": "c4orf50"
        },
        {
          "symbol": "JAKMIP1",
          "ensemblId": "ENSG00000152969",
          "biotype": "protein_coding",
          "start": 6026199,
          "end": 6200596,
          "strand": "-",
          "slug": "jakmip1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000284684",
          "biotype": "protein_coding",
          "start": 6064977,
          "end": 6070162,
          "strand": "-"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "ellis-van-creveld-and-cranioectodermal-dysplasia",
        "name": "Sindromul Ellis-van Creveld și displazia craniectodermică",
        "diseases": [
          {
            "mondoId": "MONDO:0009162",
            "name": "Sindromul Ellis-van Creveld",
            "genes": 2,
            "inheritance": "autosomal-recessive",
            "description": "O afecțiune asociată cu genele EVC/EVC2, cu membre scurte, degete suplimentare, torace mic, anomalii ale unghiilor și dinților și malformații cardiace la peste jumătate dintre persoanele afectate.",
            "management": "Se recomandă evaluarea inimii la momentul diagnosticului.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "Myriad Women's Health",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0008673",
            "name": "Acrofacială dismorfică Weyers",
            "genes": 2,
            "inheritance": "autosomal-dominant",
            "description": "O afecțiune mai ușoară asociată cu genele EVC/EVC2, cu diferențe la nivelul unghiilor, dinților și degetelor.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/ellis-van-creveld-and-cranioectodermal-dysplasia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-antihelix-morphology",
        "name": "Abnormal antihelix morphology",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-antihelix-morphology"
      },
      {
        "slug": "abnormal-cardiovascular-system-morphology",
        "name": "Abnormal cardiovascular system morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology"
      },
      {
        "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": "abnormal-fingernail-morphology",
        "name": "Abnormal fingernails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-fingernail-morphology"
      },
      {
        "slug": "abnormal-hair-quantity",
        "name": "Abnormal hair quantity",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-hair-quantity"
      },
      {
        "slug": "abnormal-heart-valve-morphology",
        "name": "Abnormal heart valve morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-heart-valve-morphology"
      },
      {
        "slug": "abnormal-morphology-of-female-internal-genitalia",
        "name": "Abnormal morphology of female internal genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-morphology-of-female-internal-genitalia"
      },
      {
        "slug": "abnormal-oral-frenulum-morphology",
        "name": "Abnormal oral frenulum morphology",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-oral-frenulum-morphology"
      },
      {
        "slug": "abnormal-pelvic-girdle-bone-morphology",
        "name": "Abnormal shape of pelvic girdle bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-pelvic-girdle-bone-morphology"
      },
      {
        "slug": "toenail-dysplasia",
        "name": "Abnormal toenail development",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/toenail-dysplasia"
      },
      {
        "slug": "abnormal-alveolar-ridge-morphology",
        "name": "Abnormality of gum ridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/abnormal-alveolar-ridge-morphology"
      },
      {
        "slug": "abnormal-oral-mucosa-morphology",
        "name": "Abnormality of lining of mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-oral-mucosa-morphology"
      },
      {
        "slug": "abnormal-hair-morphology",
        "name": "Abnormality of the hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-hair-morphology"
      },
      {
        "slug": "abnormality-of-the-kidney",
        "name": "Abnormality of the kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-kidney"
      },
      {
        "slug": "abnormal-nail-morphology",
        "name": "Abnormality of the nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-nail-morphology"
      },
      {
        "slug": "abnormality-of-the-skeletal-system",
        "name": "Abnormality of the skeletal system",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-skeletal-system"
      },
      {
        "slug": "abnormal-toenail-morphology",
        "name": "Abnormality of the toenail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-toenail-morphology"
      },
      {
        "slug": "abnormality-of-the-ureter",
        "name": "Abnormality of the ureter",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-ureter"
      },
      {
        "slug": "hypotelorism",
        "name": "Abnormally close eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hypotelorism"
      },
      {
        "slug": "renal-hypoplasia-aplasia",
        "name": "Absent/small kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-hypoplasia-aplasia"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-lungs",
        "name": "Absent/small lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-lungs"
      },
      {
        "slug": "acetabular-spurs",
        "name": "Acetabular spurs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/acetabular-spurs"
      },
      {
        "slug": "acute-leukemia",
        "name": "Acute blood cancer",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-leukemia"
      },
      {
        "slug": "situs-inversus-totalis",
        "name": "All organs on wrong side of body",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/situs-inversus-totalis"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "nail-dysplasia",
        "name": "Atypical nail growth",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nail-dysplasia"
      },
      {
        "slug": "abnormal-bone-marrow-cell-morphology",
        "name": "Bone marrow disease",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-bone-marrow-cell-morphology"
      },
      {
        "slug": "natal-tooth",
        "name": "Born with teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/natal-tooth"
      },
      {
        "slug": "capitate-hamate-fusion",
        "name": "Capitate-hamate fusion",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/capitate-hamate-fusion"
      },
      {
        "slug": "tessier-cleft",
        "name": "Cleft of the face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tessier-cleft"
      },
      {
        "slug": "cleft-upper-lip",
        "name": "Cleft upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/cleft-upper-lip"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "common-atrium",
        "name": "Common atrium",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/common-atrium"
      },
      {
        "slug": "conical-incisor",
        "name": "Cone shaped front tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/conical-incisor"
      },
      {
        "slug": "conical-tooth",
        "name": "Cone shaped tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/conical-tooth"
      },
      {
        "slug": "cone-shaped-epiphyses-of-phalanges-2-to-5",
        "name": "Cone-shaped end part of digital bones 2 to 5",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/cone-shaped-epiphyses-of-phalanges-2-to-5"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "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": "frequent",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "dandy-walker-malformation",
        "name": "Dandy-Walker malformation",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dandy-walker-malformation"
      },
      {
        "slug": "microdontia",
        "name": "Decreased size of tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microdontia"
      },
      {
        "slug": "thin-vermilion-border",
        "name": "Decreased volume of lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thin-vermilion-border"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-eruption-of-teeth",
        "name": "Delayed eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth"
      },
      {
        "slug": "disproportionate-short-limb-short-stature",
        "name": "Disproportionate short-limb short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/disproportionate-short-limb-short-stature"
      },
      {
        "slug": "foot-polydactyly",
        "name": "Duplication of bones of the toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/foot-polydactyly"
      },
      {
        "slug": "advanced-eruption-of-teeth",
        "name": "Early eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/advanced-eruption-of-teeth"
      },
      {
        "slug": "ectodermal-dysplasia",
        "name": "Ectodermal dysplasia",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/ectodermal-dysplasia"
      },
      {
        "slug": "emphysema",
        "name": "Emphysema",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/emphysema"
      },
      {
        "slug": "epispadias",
        "name": "Epispadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epispadias"
      },
      {
        "slug": "hand-polydactyly",
        "name": "Extra finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hand-polydactyly"
      },
      {
        "slug": "postaxial-hand-polydactyly",
        "name": "Extra little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/postaxial-hand-polydactyly"
      },
      {
        "slug": "postaxial-foot-polydactyly",
        "name": "Extra toe attached near the little toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/postaxial-foot-polydactyly"
      },
      {
        "slug": "hypodontia",
        "name": "Failure of development of between one and six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypodontia"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "synostosis-of-carpal-bones",
        "name": "Fusion of wrist bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/synostosis-of-carpal-bones"
      },
      {
        "slug": "dextrocardia",
        "name": "Heart tip and four chambers point towards right side of body",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dextrocardia"
      },
      {
        "slug": "atrioventricular-canal-defect",
        "name": "Hole in center of heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/atrioventricular-canal-defect"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "horizontal-ribs",
        "name": "Horizontal ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/horizontal-ribs"
      },
      {
        "slug": "hydroureter",
        "name": "Hydroureter",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydroureter"
      },
      {
        "slug": "hypoplastic-iliac-wing",
        "name": "Hypoplastic iliac wing",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplastic-iliac-wing"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "genu-valgum",
        "name": "Knock knees",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/genu-valgum"
      },
      {
        "slug": "mild-short-stature",
        "name": "Mild short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mild-short-stature"
      },
      {
        "slug": "narrow-chest",
        "name": "Narrow chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/narrow-chest"
      },
      {
        "slug": "neonatal-short-limb-short-stature",
        "name": "Neonatal short-limb short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neonatal-short-limb-short-stature"
      },
      {
        "slug": "solitary-median-maxillary-central-incisor",
        "name": "Only one upper front tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/solitary-median-maxillary-central-incisor"
      },
      {
        "slug": "cubitus-valgus",
        "name": "Outward turned elbows",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cubitus-valgus"
      },
      {
        "slug": "overlapping-fingers",
        "name": "Overlapping fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/overlapping-fingers"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "prominent-antihelix",
        "name": "Prominent antihelix",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/prominent-antihelix"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-long-bone",
        "name": "Short long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-long-bone"
      },
      {
        "slug": "short-distal-phalanx-of-finger",
        "name": "Short outermost finger bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-distal-phalanx-of-finger"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/short-ribs"
      },
      {
        "slug": "short-thorax",
        "name": "Shorter than typical length between neck and abdomen",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-thorax"
      },
      {
        "slug": "small-hand",
        "name": "Small hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/small-hand"
      },
      {
        "slug": "small-nail",
        "name": "Small nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/small-nail"
      },
      {
        "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": "hypoplastic-toenails",
        "name": "Underdeveloped toenails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-toenails"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      }
    ],
    "related": [
      {
        "slug": "evc",
        "symbol": "EVC",
        "name": "EvC ciliary complex subunit 1",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/evc"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}