{
  "url": "https://dantelabs.com/pt/genes/hes7",
  "gene": {
    "slug": "hes7",
    "symbol": "HES7",
    "name": "hes family bHLH transcription factor 7",
    "hgnc": "HGNC:15977",
    "summary": null,
    "location": "17p13.1",
    "locusType": "gene with protein product",
    "aliases": [
      "bHLHb37"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000179111",
    "entrezId": 84667,
    "omim": [
      "608059"
    ],
    "uniprot": [
      "Q9BYE0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 8120592,
      "end": 8124106,
      "strand": "-",
      "ensemblTranscript": "ENST00000541682.7",
      "refseqTranscript": "NM_001165967.2",
      "ensemblProtein": "ENSP00000446205.2",
      "refseqProtein": "NP_001159439.1",
      "exons": [
        {
          "start": 8120592,
          "end": 8122037
        },
        {
          "start": 8122343,
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        },
        {
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        },
        {
          "start": 8124043,
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        }
      ],
      "cds": {
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      }
    },
    "grch37": {
      "build": "GRCh37",
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      "end": 8027410,
      "strand": "-"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "SHBG",
          "ensemblId": "ENSG00000129214",
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          "end": 7633469,
          "strand": "+",
          "slug": "shbg"
        },
        {
          "symbol": "SAT2",
          "ensemblId": "ENSG00000141504",
          "biotype": "protein_coding",
          "start": 7626234,
          "end": 7627879,
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        },
        {
          "symbol": "ATP1B2",
          "ensemblId": "ENSG00000129244",
          "biotype": "protein_coding",
          "start": 7646627,
          "end": 7657771,
          "strand": "+",
          "slug": "atp1b2"
        },
        {
          "symbol": "TP53",
          "ensemblId": "ENSG00000141510",
          "biotype": "protein_coding",
          "start": 7661779,
          "end": 7687546,
          "strand": "-",
          "slug": "tp53"
        },
        {
          "symbol": "WRAP53",
          "ensemblId": "ENSG00000141499",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "wrap53"
        },
        {
          "symbol": "EFNB3",
          "ensemblId": "ENSG00000108947",
          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "DNAH2",
          "ensemblId": "ENSG00000183914",
          "biotype": "protein_coding",
          "start": 7717728,
          "end": 7833742,
          "strand": "+",
          "slug": "dnah2"
        },
        {
          "symbol": "KDM6B",
          "ensemblId": "ENSG00000132510",
          "biotype": "protein_coding",
          "start": 7834193,
          "end": 7854808,
          "strand": "+",
          "slug": "kdm6b"
        },
        {
          "symbol": "TMEM88",
          "ensemblId": "ENSG00000167874",
          "biotype": "protein_coding",
          "start": 7855057,
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          "strand": "+",
          "slug": "tmem88"
        },
        {
          "symbol": "NAA38",
          "ensemblId": "ENSG00000183011",
          "biotype": "protein_coding",
          "start": 7856681,
          "end": 7885238,
          "strand": "-",
          "slug": "naa38"
        },
        {
          "symbol": "CYB5D1",
          "ensemblId": "ENSG00000182224",
          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "CHD3",
          "ensemblId": "ENSG00000170004",
          "biotype": "protein_coding",
          "start": 7884787,
          "end": 7912760,
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        },
        {
          "symbol": "RNF227",
          "ensemblId": "ENSG00000179859",
          "biotype": "protein_coding",
          "start": 7913238,
          "end": 7916377,
          "strand": "-",
          "slug": "rnf227"
        },
        {
          "symbol": "KCNAB3",
          "ensemblId": "ENSG00000170049",
          "biotype": "protein_coding",
          "start": 7920956,
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          "strand": "-",
          "slug": "kcnab3"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000262730",
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        },
        {
          "symbol": "TRAPPC1",
          "ensemblId": "ENSG00000170043",
          "biotype": "protein_coding",
          "start": 7930345,
          "end": 7932123,
          "strand": "-",
          "slug": "trappc1"
        },
        {
          "symbol": "CNTROB",
          "ensemblId": "ENSG00000170037",
          "biotype": "protein_coding",
          "start": 7932101,
          "end": 7949953,
          "strand": "+",
          "slug": "cntrob"
        },
        {
          "symbol": "GUCY2D",
          "ensemblId": "ENSG00000132518",
          "biotype": "protein_coding",
          "start": 8002615,
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          "strand": "+",
          "slug": "gucy2d"
        },
        {
          "symbol": "ALOX15B",
          "ensemblId": "ENSG00000179593",
          "biotype": "protein_coding",
          "start": 8039011,
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          "strand": "+",
          "slug": "alox15b"
        },
        {
          "symbol": "ALOX12B",
          "ensemblId": "ENSG00000179477",
          "biotype": "protein_coding",
          "start": 8068594,
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          "strand": "-",
          "slug": "alox12b"
        },
        {
          "symbol": "ALOXE3",
          "ensemblId": "ENSG00000179148",
          "biotype": "protein_coding",
          "start": 8095900,
          "end": 8119047,
          "strand": "-",
          "slug": "aloxe3"
        },
        {
          "symbol": "PER1",
          "ensemblId": "ENSG00000179094",
          "biotype": "protein_coding",
          "start": 8140467,
          "end": 8156506,
          "strand": "-",
          "slug": "per1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000263620",
          "biotype": "protein_coding",
          "start": 8150816,
          "end": 8162975,
          "strand": "-"
        },
        {
          "symbol": "VAMP2",
          "ensemblId": "ENSG00000220205",
          "biotype": "protein_coding",
          "start": 8159149,
          "end": 8163584,
          "strand": "-",
          "slug": "vamp2"
        },
        {
          "symbol": "TMEM107",
          "ensemblId": "ENSG00000179029",
          "biotype": "protein_coding",
          "start": 8172440,
          "end": 8176408,
          "strand": "-",
          "slug": "tmem107"
        },
        {
          "symbol": "BORCS6",
          "ensemblId": "ENSG00000196544",
          "biotype": "protein_coding",
          "start": 8188345,
          "end": 8190180,
          "strand": "-",
          "slug": "borcs6"
        },
        {
          "symbol": "AURKB",
          "ensemblId": "ENSG00000178999",
          "biotype": "protein_coding",
          "start": 8204335,
          "end": 8210638,
          "strand": "-",
          "slug": "aurkb"
        },
        {
          "symbol": "CTC1",
          "ensemblId": "ENSG00000178971",
          "biotype": "protein_coding",
          "start": 8224815,
          "end": 8248075,
          "strand": "-",
          "slug": "ctc1"
        },
        {
          "symbol": "PFAS",
          "ensemblId": "ENSG00000178921",
          "biotype": "protein_coding",
          "start": 8247618,
          "end": 8271150,
          "strand": "+",
          "slug": "pfas"
        },
        {
          "symbol": "SLC25A35",
          "ensemblId": "ENSG00000125434",
          "biotype": "protein_coding",
          "start": 8287762,
          "end": 8295410,
          "strand": "-",
          "slug": "slc25a35"
        },
        {
          "symbol": "RANGRF",
          "ensemblId": "ENSG00000108961",
          "biotype": "protein_coding",
          "start": 8288631,
          "end": 8290092,
          "strand": "+",
          "slug": "rangrf"
        },
        {
          "symbol": "ARHGEF15",
          "ensemblId": "ENSG00000198844",
          "biotype": "protein_coding",
          "start": 8310222,
          "end": 8323203,
          "strand": "+",
          "slug": "arhgef15"
        },
        {
          "symbol": "ODF4",
          "ensemblId": "ENSG00000184650",
          "biotype": "protein_coding",
          "start": 8339840,
          "end": 8346048,
          "strand": "+",
          "slug": "odf4"
        },
        {
          "symbol": "KRABD2",
          "ensemblId": "ENSG00000184619",
          "biotype": "protein_coding",
          "start": 8356902,
          "end": 8376738,
          "strand": "-",
          "slug": "krabd2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000263809",
          "biotype": "protein_coding",
          "start": 8368638,
          "end": 8383187,
          "strand": "-"
        },
        {
          "symbol": "RPL26",
          "ensemblId": "ENSG00000161970",
          "biotype": "protein_coding",
          "start": 8377500,
          "end": 8384062,
          "strand": "-",
          "slug": "rpl26"
        },
        {
          "symbol": "RNF222",
          "ensemblId": "ENSG00000189051",
          "biotype": "protein_coding",
          "start": 8390702,
          "end": 8397827,
          "strand": "-",
          "slug": "rnf222"
        },
        {
          "symbol": "NDEL1",
          "ensemblId": "ENSG00000166579",
          "biotype": "protein_coding",
          "start": 8408528,
          "end": 8501107,
          "strand": "+",
          "slug": "ndel1"
        },
        {
          "symbol": "MYH10",
          "ensemblId": "ENSG00000133026",
          "biotype": "protein_coding",
          "start": 8474205,
          "end": 8632303,
          "strand": "-",
          "slug": "myh10"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "disorder-of-glycosylation",
        "name": "Doenças Congénitas da Glicosilação",
        "diseases": [
          {
            "mondoId": "MONDO:0015286",
            "name": "Doenças Congénitas da Glicosilação (CDG)",
            "genes": 98,
            "inheritance": null,
            "description": "Um grande grupo de doenças hereditárias em que as cadeias de açúcares (glicanos) não são corretamente construídas nem fixadas às proteínas e aos lípidos, afetando frequentemente o cérebro, o fígado, a coagulação do sangue, o crescimento e muitos outros sistemas do corpo. A maioria é autossómica recessiva, mas algumas são ligadas ao cromossoma X ou autossómicas dominantes.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/disorder-of-glycosylation"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "ectopic-anus",
        "name": "Abnormal anus position",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ectopic-anus"
      },
      {
        "slug": "abnormal-cardiovascular-system-morphology",
        "name": "Abnormal cardiovascular system morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology"
      },
      {
        "slug": "abnormal-intervertebral-disk-morphology",
        "name": "Abnormal intervertebral disk morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-intervertebral-disk-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-odontoid-process-morphology",
        "name": "Abnormal odontoid process morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-odontoid-process-morphology"
      },
      {
        "slug": "abnormal-vertebral-body-morphology",
        "name": "Abnormal vertebral body morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology"
      },
      {
        "slug": "abnormality-of-immune-system-physiology",
        "name": "Abnormality of immune system physiology",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-immune-system-physiology"
      },
      {
        "slug": "abnormal-rib-morphology",
        "name": "Abnormality of the ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-rib-morphology"
      },
      {
        "slug": "abnormality-of-the-ureter",
        "name": "Abnormality of the ureter",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-ureter"
      },
      {
        "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": "situs-inversus-totalis",
        "name": "All organs on wrong side of body",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/situs-inversus-totalis"
      },
      {
        "slug": "anomalous-pulmonary-venous-return",
        "name": "Anomalous pulmonary venous return",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anomalous-pulmonary-venous-return"
      },
      {
        "slug": "aplasia-of-posterior-communicating-artery",
        "name": "Aplasia of posterior communicating artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aplasia-of-posterior-communicating-artery"
      },
      {
        "slug": "bell-shaped-thorax",
        "name": "Bell-shaped thorax",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bell-shaped-thorax"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "block-vertebrae",
        "name": "Block vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/block-vertebrae"
      },
      {
        "slug": "broad-forehead",
        "name": "Broad forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/broad-forehead"
      },
      {
        "slug": "broad-neck",
        "name": "Broad neck",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/broad-neck"
      },
      {
        "slug": "chiari-type-ii-malformation",
        "name": "Chiari type II malformation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chiari-type-ii-malformation"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "congenital-diaphragmatic-hernia",
        "name": "Congenital diaphragmatic hernia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congenital-diaphragmatic-hernia"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "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": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "dextrocardia",
        "name": "Heart tip and four chambers point towards right side of body",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/dextrocardia"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "neurogenic-bladder",
        "name": "Lack of bladder control due to nervous system injury",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/neurogenic-bladder"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "meningocele",
        "name": "Meningocele",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/meningocele"
      },
      {
        "slug": "hemivertebrae",
        "name": "Missing part of vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hemivertebrae"
      },
      {
        "slug": "missing-ribs",
        "name": "Missing ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/missing-ribs"
      },
      {
        "slug": "myelomeningocele",
        "name": "Myelomeningocele",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myelomeningocele"
      },
      {
        "slug": "anal-stenosis",
        "name": "Narrowing of anal opening",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anal-stenosis"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "camptodactyly-of-finger",
        "name": "Permanent flexion of the finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/camptodactyly-of-finger"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "prominent-occiput",
        "name": "Prominent back of the head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prominent-occiput"
      },
      {
        "slug": "reduced-forced-expiratory-volume-in-one-second",
        "name": "Reduced forced expiratory volume in one second",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-forced-expiratory-volume-in-one-second"
      },
      {
        "slug": "reduced-forced-vital-capacity",
        "name": "Reduced forced vital capacity",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-forced-vital-capacity"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "rib-fusion",
        "name": "Rib fusion",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/rib-fusion"
      },
      {
        "slug": "rib-segmentation-abnormalities",
        "name": "Rib segmentation abnormalities",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/rib-segmentation-abnormalities"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "short-thorax",
        "name": "Shorter than typical length between neck and abdomen",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-thorax"
      },
      {
        "slug": "spina-bifida-occulta",
        "name": "Spina bifida occulta",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spina-bifida-occulta"
      },
      {
        "slug": "restrictive-ventilatory-defect",
        "name": "Stiff lung or chest wall causing decreased lung volume",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "unilateral-vertebral-artery-hypoplasia",
        "name": "Unilateral vertebral artery hypoplasia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/unilateral-vertebral-artery-hypoplasia"
      },
      {
        "slug": "urogenital-fistula",
        "name": "Urogenital fistula",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urogenital-fistula"
      },
      {
        "slug": "vertebral-artery-hypoplasia",
        "name": "Vertebral artery hypoplasia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/vertebral-artery-hypoplasia"
      },
      {
        "slug": "vertebral-fusion",
        "name": "Vertebral fusion",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/vertebral-fusion"
      },
      {
        "slug": "vertebral-segmentation-defect",
        "name": "Vertebral segmentation defect",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/vertebral-segmentation-defect"
      }
    ],
    "related": [
      {
        "slug": "a4galt",
        "symbol": "A4GALT",
        "name": "alpha 1,4-galactosyltransferase (P1PK blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/a4galt"
      },
      {
        "slug": "alg1",
        "symbol": "ALG1",
        "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/alg1"
      },
      {
        "slug": "alg11",
        "symbol": "ALG11",
        "name": "ALG11 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/alg11"
      },
      {
        "slug": "alg12",
        "symbol": "ALG12",
        "name": "ALG12 alpha-1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/alg12"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/alg13"
      },
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/alg14"
      },
      {
        "slug": "alg2",
        "symbol": "ALG2",
        "name": "ALG2 alpha-1,3/1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/alg2"
      },
      {
        "slug": "alg3",
        "symbol": "ALG3",
        "name": "ALG3 alpha-1,3- mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/alg3"
      },
      {
        "slug": "alg6",
        "symbol": "ALG6",
        "name": "ALG6 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/alg6"
      },
      {
        "slug": "alg8",
        "symbol": "ALG8",
        "name": "ALG8 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/alg8"
      },
      {
        "slug": "alg9",
        "symbol": "ALG9",
        "name": "ALG9 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/alg9"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/atp6ap1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}