{
  "url": "https://dantelabs.com/genes/esco2",
  "gene": {
    "slug": "esco2",
    "symbol": "ESCO2",
    "name": "establishment of sister chromatid cohesion N-acetyltransferase 2",
    "hgnc": "HGNC:27230",
    "summary": null,
    "location": "8p21.1",
    "locusType": "gene with protein product",
    "aliases": [
      "EFO2"
    ],
    "previousSymbols": [
      "RBS"
    ],
    "ensemblId": "ENSG00000171320",
    "entrezId": 157570,
    "omim": [
      "609353"
    ],
    "uniprot": [
      "Q56NI9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "8",
      "start": 27774554,
      "end": 27805316,
      "strand": "+",
      "ensemblTranscript": "ENST00000305188.13",
      "refseqTranscript": "NM_001017420.3",
      "ensemblProtein": "ENSP00000306999.8",
      "refseqProtein": "NP_001017420.1",
      "exons": [
        {
          "start": 27774554,
          "end": 27774607
        },
        {
          "start": 27775499,
          "end": 27775567
        },
        {
          "start": 27776362,
          "end": 27777169
        },
        {
          "start": 27780174,
          "end": 27780267
        },
        {
          "start": 27784000,
          "end": 27784057
        },
        {
          "start": 27787885,
          "end": 27788002
        },
        {
          "start": 27788847,
          "end": 27788978
        },
        {
          "start": 27791963,
          "end": 27792052
        },
        {
          "start": 27792668,
          "end": 27792811
        },
        {
          "start": 27799541,
          "end": 27799716
        },
        {
          "start": 27803306,
          "end": 27805316
        }
      ],
      "cds": {
        "start": 27775515,
        "end": 27803438
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "8",
      "start": 27629466,
      "end": 27670157,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 27289935,
      "end": 28289934,
      "genes": [
        {
          "symbol": "TRIM35",
          "ensemblId": "ENSG00000104228",
          "biotype": "protein_coding",
          "start": 27284884,
          "end": 27311289,
          "strand": "-",
          "slug": "trim35"
        },
        {
          "symbol": "PTK2B",
          "ensemblId": "ENSG00000120899",
          "biotype": "protein_coding",
          "start": 27311456,
          "end": 27459392,
          "strand": "+",
          "slug": "ptk2b"
        },
        {
          "symbol": "CHRNA2",
          "ensemblId": "ENSG00000120903",
          "biotype": "protein_coding",
          "start": 27459756,
          "end": 27479883,
          "strand": "-",
          "slug": "chrna2"
        },
        {
          "symbol": "EPHX2",
          "ensemblId": "ENSG00000120915",
          "biotype": "protein_coding",
          "start": 27490775,
          "end": 27578674,
          "strand": "+",
          "slug": "ephx2"
        },
        {
          "symbol": "CLU",
          "ensemblId": "ENSG00000120885",
          "biotype": "protein_coding",
          "start": 27596917,
          "end": 27635085,
          "strand": "-",
          "slug": "clu"
        },
        {
          "symbol": "SCARA3",
          "ensemblId": "ENSG00000168077",
          "biotype": "protein_coding",
          "start": 27633372,
          "end": 27698687,
          "strand": "+",
          "slug": "scara3"
        },
        {
          "symbol": "CCDC25",
          "ensemblId": "ENSG00000147419",
          "biotype": "protein_coding",
          "start": 27733316,
          "end": 27772655,
          "strand": "-",
          "slug": "ccdc25"
        },
        {
          "symbol": "PBK",
          "ensemblId": "ENSG00000168078",
          "biotype": "protein_coding",
          "start": 27809532,
          "end": 27838082,
          "strand": "-",
          "slug": "pbk"
        },
        {
          "symbol": "SCARA5",
          "ensemblId": "ENSG00000168079",
          "biotype": "protein_coding",
          "start": 27869883,
          "end": 27992840,
          "strand": "-",
          "slug": "scara5"
        },
        {
          "symbol": "NUGGC",
          "ensemblId": "ENSG00000189233",
          "biotype": "protein_coding",
          "start": 28021276,
          "end": 28083942,
          "strand": "-",
          "slug": "nuggc"
        },
        {
          "symbol": "ELP3",
          "ensemblId": "ENSG00000134014",
          "biotype": "protein_coding",
          "start": 28089673,
          "end": 28191156,
          "strand": "+",
          "slug": "elp3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "roberts-syndrome-esco2",
        "name": "Roberts Syndrome",
        "diseases": [
          {
            "mondoId": "MONDO:0100253",
            "name": "Roberts Syndrome (Including SC Phocomelia)",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Caused by loss-of-function changes in both copies of ESCO2, which encodes an enzyme needed for sister chromatid cohesion during cell division. A characteristic finding on chromosome testing is premature separation of the centromeres.",
            "management": "Care involves orthopaedic and limb support, cleft and craniofacial surgery, and developmental assessment. Both parents of an affected child are usually carriers, so each further child has a 1 in 4 chance of being affected; genetic counselling and carrier testing of relatives are available.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/roberts-syndrome-esco2"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-abdomen-morphology",
        "name": "Abdomen abnormality",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-abdomen-morphology"
      },
      {
        "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-metacarpal-morphology",
        "name": "Abnormal shape of long bones of hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-metacarpal-morphology"
      },
      {
        "slug": "abnormal-vertebral-morphology",
        "name": "Abnormal vertebral morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-vertebral-morphology"
      },
      {
        "slug": "abnormal-carpal-morphology",
        "name": "Abnormal wrist bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-carpal-morphology"
      },
      {
        "slug": "abnormal-finger-morphology",
        "name": "Abnormalities of the fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-finger-morphology"
      },
      {
        "slug": "abnormal-toe-morphology",
        "name": "Abnormalities of the toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-toe-morphology"
      },
      {
        "slug": "abnormality-of-the-elbow",
        "name": "Abnormality of the elbow",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-elbow"
      },
      {
        "slug": "abnormal-eyebrow-morphology",
        "name": "Abnormality of the eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-eyebrow-morphology"
      },
      {
        "slug": "abnormality-of-the-radial-head",
        "name": "Abnormality of the radial head",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-the-radial-head"
      },
      {
        "slug": "abnormal-rib-morphology",
        "name": "Abnormality of the ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-rib-morphology"
      },
      {
        "slug": "abnormality-of-the-upper-limb",
        "name": "Abnormality of the upper limb",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-upper-limb"
      },
      {
        "slug": "abnormality-of-the-wrist",
        "name": "Abnormality of the wrist",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-wrist"
      },
      {
        "slug": "abnormal-pinna-morphology",
        "name": "Abnormally shaped ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-pinna-morphology"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "absent-earlobe",
        "name": "Absent earlobe",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-earlobe"
      },
      {
        "slug": "finger-aplasia",
        "name": "Absent fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/finger-aplasia"
      },
      {
        "slug": "patellar-aplasia",
        "name": "Absent kneecap",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patellar-aplasia"
      },
      {
        "slug": "absent-thumb",
        "name": "Absent thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-thumb"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-thumb",
        "name": "Absent/small thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-thumb"
      },
      {
        "slug": "accessory-spleen",
        "name": "Accessory spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/accessory-spleen"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "ankle-flexion-contracture",
        "name": "Ankle flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/ankle-flexion-contracture"
      },
      {
        "slug": "anteriorly-placed-anus",
        "name": "Anteriorly placed anus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anteriorly-placed-anus"
      },
      {
        "slug": "aplasia-of-the-ulna",
        "name": "Aplasia of the ulna",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-of-the-ulna"
      },
      {
        "slug": "proximal-placement-of-thumb",
        "name": "Attachment of thumb close to wrist",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/proximal-placement-of-thumb"
      },
      {
        "slug": "hyperplasia-of-the-maxilla",
        "name": "Big maxilla",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperplasia-of-the-maxilla"
      },
      {
        "slug": "bilateral-single-transverse-palmar-creases",
        "name": "Bilateral single transverse palmar creases",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bilateral-single-transverse-palmar-creases"
      },
      {
        "slug": "biliary-tract-abnormality",
        "name": "Biliary tract abnormality",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/biliary-tract-abnormality"
      },
      {
        "slug": "cafe-au-lait-spot",
        "name": "Birthmark",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/cafe-au-lait-spot"
      },
      {
        "slug": "blue-sclerae",
        "name": "Blue outer white part of eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blue-sclerae"
      },
      {
        "slug": "bowing-of-the-long-bones",
        "name": "Bowing of the long bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bowing-of-the-long-bones"
      },
      {
        "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": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "cavernous-hemangioma-of-the-face",
        "name": "Cavernous hemangioma of the face",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cavernous-hemangioma-of-the-face"
      },
      {
        "slug": "eyelid-coloboma",
        "name": "Cleft eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/eyelid-coloboma"
      },
      {
        "slug": "orofacial-cleft",
        "name": "Cleft of the mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/orofacial-cleft"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cleft-upper-lip",
        "name": "Cleft upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cleft-upper-lip"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "narrow-naris",
        "name": "Collapsed nostrils",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/narrow-naris"
      },
      {
        "slug": "complete-duplication-of-thumb-phalanx",
        "name": "Complete duplication of thumb bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/complete-duplication-of-thumb-phalanx"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "cranial-nerve-paralysis",
        "name": "Cranial nerve paralysis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cranial-nerve-paralysis"
      },
      {
        "slug": "clinodactyly",
        "name": "Curvature of digit",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/clinodactyly"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "cystic-hygroma",
        "name": "Cystic hygroma",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/cystic-hygroma"
      },
      {
        "slug": "dandy-walker-malformation",
        "name": "Dandy-Walker malformation",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dandy-walker-malformation"
      },
      {
        "slug": "shallow-orbits",
        "name": "Decreased depth of eye sockets",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-eye",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/shallow-orbits"
      },
      {
        "slug": "decreased-response-to-growth-hormone-stimulation-test",
        "name": "Decreased response to growth hormone stimulation test",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-response-to-growth-hormone-stimulation-test"
      },
      {
        "slug": "craniosynostosis",
        "name": "Deformity of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/craniosynostosis"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "elbow-flexion-contracture",
        "name": "Elbow flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/elbow-flexion-contracture"
      },
      {
        "slug": "clitoral-hypertrophy",
        "name": "Enlarged clitoris",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clitoral-hypertrophy"
      },
      {
        "slug": "enlarged-labia-minora",
        "name": "Enlarged labia minora",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/enlarged-labia-minora"
      },
      {
        "slug": "finger-syndactyly",
        "name": "Finger syndactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/finger-syndactyly"
      },
      {
        "slug": "underdeveloped-supraorbital-ridges",
        "name": "Flattened bony protrusion above eyes",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/underdeveloped-supraorbital-ridges"
      },
      {
        "slug": "frontoethmoidal-encephalocele",
        "name": "Frontoethmoidal encephalocele",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/frontoethmoidal-encephalocele"
      },
      {
        "slug": "radioulnar-synostosis",
        "name": "Fused forearm bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/radioulnar-synostosis"
      },
      {
        "slug": "toe-syndactyly",
        "name": "Fused toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/toe-syndactyly"
      },
      {
        "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": "sandal-gap",
        "name": "Gap between 1st and 2nd toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sandal-gap"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hammertoe",
        "name": "Hammertoe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hammertoe"
      },
      {
        "slug": "bicornuate-uterus",
        "name": "Heart shaped uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/bicornuate-uterus"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "highly-arched-eyebrow",
        "name": "Highly arched eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/highly-arched-eyebrow"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "horseshoe-kidney",
        "name": "Horseshoe kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/horseshoe-kidney"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "knee-flexion-contracture",
        "name": "Inability to straighten knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/knee-flexion-contracture"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "limited-elbow-extension",
        "name": "Limited elbow extension",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/limited-elbow-extension"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "long-penis",
        "name": "Long penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/long-penis"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "mesomelic-arm-shortening",
        "name": "Mesomelic arm shortening",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mesomelic-arm-shortening"
      },
      {
        "slug": "midface-capillary-hemangioma",
        "name": "Midface capillary hemangioma",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/midface-capillary-hemangioma"
      },
      {
        "slug": "absent-radius",
        "name": "Missing outer large bone of forearm",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-radius"
      },
      {
        "slug": "coloboma",
        "name": "Notched pupil",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/coloboma"
      },
      {
        "slug": "opacification-of-the-corneal-stroma",
        "name": "Opacification of the corneal stroma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/opacification-of-the-corneal-stroma"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "phocomelia",
        "name": "Phocomelia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/phocomelia"
      },
      {
        "slug": "polycystic-kidney-dysplasia",
        "name": "Polycystic kidney dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polycystic-kidney-dysplasia"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "premature-separation-of-centromeric-heterochromatin",
        "name": "Premature separation of centromeric heterochromatin",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/premature-separation-of-centromeric-heterochromatin"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "progressive-flexion-contractures",
        "name": "Progressive flexion contractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/progressive-flexion-contractures"
      },
      {
        "slug": "radial-deviation-of-finger",
        "name": "Radial deviation of finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/radial-deviation-of-finger"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "severe-intrauterine-growth-retardation",
        "name": "Severe prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-intrauterine-growth-retardation"
      },
      {
        "slug": "severe-short-stature",
        "name": "Severe short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-short-stature"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-humerus",
        "name": "Short humerus",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-humerus"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "short-thumb",
        "name": "Short thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-thumb"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "talipes-equinovalgus",
        "name": "Talipes equinovalgus",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/talipes-equinovalgus"
      },
      {
        "slug": "tetraphocomelia",
        "name": "Tetraphocomelia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/tetraphocomelia"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "hypoplasia-of-the-ulna",
        "name": "Underdeveloped inner large forearm bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-ulna"
      },
      {
        "slug": "hypoplasia-of-the-radius",
        "name": "Underdeveloped outer large forearm bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-radius"
      },
      {
        "slug": "underdeveloped-nasal-alae",
        "name": "Underdeveloped tissue around nostril",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/underdeveloped-nasal-alae"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "syndactyly",
        "name": "Webbed fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/syndactyly"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "wide-nose",
        "name": "Wide nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/wide-nose"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "wrist-flexion-contracture",
        "name": "Wrist flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wrist-flexion-contracture"
      },
      {
        "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": [],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}