{
  "url": "https://dantelabs.com/pl/genes/b4gat1",
  "gene": {
    "slug": "b4gat1",
    "symbol": "B4GAT1",
    "name": "beta-1,4-glucuronyltransferase 1",
    "hgnc": "HGNC:15685",
    "summary": null,
    "location": "11q13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "IGnT",
      "iGAT",
      "BETA3GNTI",
      "B3GN-T1"
    ],
    "previousSymbols": [
      "B3GNT6",
      "B3GNT1"
    ],
    "ensemblId": "ENSG00000174684",
    "entrezId": 11041,
    "omim": [
      "605517"
    ],
    "uniprot": [
      "O43505"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 66345374,
      "end": 66347629,
      "strand": "-",
      "ensemblTranscript": "ENST00000311181.5",
      "refseqTranscript": "NM_006876.3",
      "ensemblProtein": "ENSP00000309096.4",
      "refseqProtein": "NP_006867.1",
      "exons": [
        {
          "start": 66345374,
          "end": 66346240
        },
        {
          "start": 66346490,
          "end": 66347629
        }
      ],
      "cds": {
        "start": 66346049,
        "end": 66347545
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 66112843,
      "end": 66115163,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 65846502,
      "end": 66846501,
      "genes": [
        {
          "symbol": "CFL1",
          "ensemblId": "ENSG00000172757",
          "biotype": "protein_coding",
          "start": 65823022,
          "end": 65862026,
          "strand": "-",
          "slug": "cfl1"
        },
        {
          "symbol": "SNX32",
          "ensemblId": "ENSG00000172803",
          "biotype": "protein_coding",
          "start": 65833664,
          "end": 65856896,
          "strand": "+",
          "slug": "snx32"
        },
        {
          "symbol": "MUS81",
          "ensemblId": "ENSG00000172732",
          "biotype": "protein_coding",
          "start": 65857126,
          "end": 65867653,
          "strand": "+",
          "slug": "mus81"
        },
        {
          "symbol": "EFEMP2",
          "ensemblId": "ENSG00000172638",
          "biotype": "protein_coding",
          "start": 65866300,
          "end": 65878497,
          "strand": "-",
          "slug": "efemp2"
        },
        {
          "symbol": "CTSW",
          "ensemblId": "ENSG00000172543",
          "biotype": "protein_coding",
          "start": 65879809,
          "end": 65883741,
          "strand": "+",
          "slug": "ctsw"
        },
        {
          "symbol": "FIBP",
          "ensemblId": "ENSG00000172500",
          "biotype": "protein_coding",
          "start": 65883740,
          "end": 65888532,
          "strand": "-",
          "slug": "fibp"
        },
        {
          "symbol": "CCDC85B",
          "ensemblId": "ENSG00000175602",
          "biotype": "protein_coding",
          "start": 65890673,
          "end": 65891635,
          "strand": "+",
          "slug": "ccdc85b"
        },
        {
          "symbol": "FOSL1",
          "ensemblId": "ENSG00000175592",
          "biotype": "protein_coding",
          "start": 65892049,
          "end": 65900573,
          "strand": "-",
          "slug": "fosl1"
        },
        {
          "symbol": "C11orf68",
          "ensemblId": "ENSG00000175573",
          "biotype": "protein_coding",
          "start": 65916810,
          "end": 65919137,
          "strand": "-",
          "slug": "c11orf68"
        },
        {
          "symbol": "DRAP1",
          "ensemblId": "ENSG00000175550",
          "biotype": "protein_coding",
          "start": 65919258,
          "end": 65921565,
          "strand": "+",
          "slug": "drap1"
        },
        {
          "symbol": "TSGA10IP",
          "ensemblId": "ENSG00000175513",
          "biotype": "protein_coding",
          "start": 65945480,
          "end": 65960217,
          "strand": "+",
          "slug": "tsga10ip"
        },
        {
          "symbol": "SART1",
          "ensemblId": "ENSG00000175467",
          "biotype": "protein_coding",
          "start": 65961681,
          "end": 65980137,
          "strand": "+",
          "slug": "sart1"
        },
        {
          "symbol": "EIF1AD",
          "ensemblId": "ENSG00000175376",
          "biotype": "protein_coding",
          "start": 65992009,
          "end": 66002472,
          "strand": "-",
          "slug": "eif1ad"
        },
        {
          "symbol": "BANF1",
          "ensemblId": "ENSG00000175334",
          "biotype": "protein_coding",
          "start": 66001832,
          "end": 66004170,
          "strand": "+",
          "slug": "banf1"
        },
        {
          "symbol": "CST6",
          "ensemblId": "ENSG00000175315",
          "biotype": "protein_coding",
          "start": 66011506,
          "end": 66013505,
          "strand": "+",
          "slug": "cst6"
        },
        {
          "symbol": "CATSPER1",
          "ensemblId": "ENSG00000175294",
          "biotype": "protein_coding",
          "start": 66016752,
          "end": 66026479,
          "strand": "-",
          "slug": "catsper1"
        },
        {
          "symbol": "GAL3ST3",
          "ensemblId": "ENSG00000175229",
          "biotype": "protein_coding",
          "start": 66040748,
          "end": 66049502,
          "strand": "-",
          "slug": "gal3st3"
        },
        {
          "symbol": "SF3B2",
          "ensemblId": "ENSG00000087365",
          "biotype": "protein_coding",
          "start": 66050729,
          "end": 66069308,
          "strand": "+",
          "slug": "sf3b2"
        },
        {
          "symbol": "PACS1",
          "ensemblId": "ENSG00000175115",
          "biotype": "protein_coding",
          "start": 66070017,
          "end": 66248638,
          "strand": "+",
          "slug": "pacs1"
        },
        {
          "symbol": "KLC2",
          "ensemblId": "ENSG00000174996",
          "biotype": "protein_coding",
          "start": 66257267,
          "end": 66267862,
          "strand": "+",
          "slug": "klc2"
        },
        {
          "symbol": "RAB1B",
          "ensemblId": "ENSG00000174903",
          "biotype": "protein_coding",
          "start": 66268586,
          "end": 66277492,
          "strand": "+",
          "slug": "rab1b"
        },
        {
          "symbol": "CNIH2",
          "ensemblId": "ENSG00000174871",
          "biotype": "protein_coding",
          "start": 66278170,
          "end": 66285301,
          "strand": "+",
          "slug": "cnih2"
        },
        {
          "symbol": "YIF1A",
          "ensemblId": "ENSG00000174851",
          "biotype": "protein_coding",
          "start": 66284253,
          "end": 66289688,
          "strand": "-",
          "slug": "yif1a"
        },
        {
          "symbol": "TMEM151A",
          "ensemblId": "ENSG00000179292",
          "biotype": "protein_coding",
          "start": 66291832,
          "end": 66299036,
          "strand": "+",
          "slug": "tmem151a"
        },
        {
          "symbol": "CD248",
          "ensemblId": "ENSG00000174807",
          "biotype": "protein_coding",
          "start": 66314494,
          "end": 66317044,
          "strand": "-",
          "slug": "cd248"
        },
        {
          "symbol": "RIN1",
          "ensemblId": "ENSG00000174791",
          "biotype": "protein_coding",
          "start": 66330241,
          "end": 66336840,
          "strand": "-",
          "slug": "rin1"
        },
        {
          "symbol": "BRMS1",
          "ensemblId": "ENSG00000174744",
          "biotype": "protein_coding",
          "start": 66337332,
          "end": 66345136,
          "strand": "-",
          "slug": "brms1"
        },
        {
          "symbol": "SLC29A2",
          "ensemblId": "ENSG00000174669",
          "biotype": "protein_coding",
          "start": 66360101,
          "end": 66372476,
          "strand": "-",
          "slug": "slc29a2"
        },
        {
          "symbol": "NPAS4",
          "ensemblId": "ENSG00000174576",
          "biotype": "protein_coding",
          "start": 66421033,
          "end": 66426707,
          "strand": "+",
          "slug": "npas4"
        },
        {
          "symbol": "MRPL11",
          "ensemblId": "ENSG00000174547",
          "biotype": "protein_coding",
          "start": 66435075,
          "end": 66466738,
          "strand": "-",
          "slug": "mrpl11"
        },
        {
          "symbol": "PELI3",
          "ensemblId": "ENSG00000174516",
          "biotype": "protein_coding",
          "start": 66466303,
          "end": 66478998,
          "strand": "+",
          "slug": "peli3"
        },
        {
          "symbol": "DPP3",
          "ensemblId": "ENSG00000254986",
          "biotype": "protein_coding",
          "start": 66479990,
          "end": 66510188,
          "strand": "+",
          "slug": "dpp3"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000256349",
          "biotype": "protein_coding",
          "start": 66509079,
          "end": 66533613,
          "strand": "+"
        },
        {
          "symbol": "BBS1",
          "ensemblId": "ENSG00000174483",
          "biotype": "protein_coding",
          "start": 66510606,
          "end": 66534660,
          "strand": "+",
          "slug": "bbs1"
        },
        {
          "symbol": "ZDHHC24",
          "ensemblId": "ENSG00000174165",
          "biotype": "protein_coding",
          "start": 66520620,
          "end": 66546244,
          "strand": "-",
          "slug": "zdhhc24"
        },
        {
          "symbol": "ACTN3",
          "ensemblId": "ENSG00000248746",
          "biotype": "protein_coding",
          "start": 66546395,
          "end": 66563334,
          "strand": "+",
          "slug": "actn3"
        },
        {
          "symbol": "CTSF",
          "ensemblId": "ENSG00000174080",
          "biotype": "protein_coding",
          "start": 66563462,
          "end": 66568879,
          "strand": "-",
          "slug": "ctsf"
        },
        {
          "symbol": "CCDC87",
          "ensemblId": "ENSG00000182791",
          "biotype": "protein_coding",
          "start": 66590176,
          "end": 66593063,
          "strand": "-",
          "slug": "ccdc87"
        },
        {
          "symbol": "CCS",
          "ensemblId": "ENSG00000173992",
          "biotype": "protein_coding",
          "start": 66592843,
          "end": 66606703,
          "strand": "+",
          "slug": "ccs"
        },
        {
          "symbol": "RBM14",
          "ensemblId": "ENSG00000239306",
          "biotype": "protein_coding",
          "start": 66616594,
          "end": 66629934,
          "strand": "+",
          "slug": "rbm14"
        },
        {
          "symbol": "RBM14-RBM4",
          "ensemblId": "ENSG00000248643",
          "biotype": "protein_coding",
          "start": 66616626,
          "end": 66646469,
          "strand": "+",
          "slug": "rbm14-rbm4"
        },
        {
          "symbol": "RBM4",
          "ensemblId": "ENSG00000173933",
          "biotype": "protein_coding",
          "start": 66637771,
          "end": 66668380,
          "strand": "+",
          "slug": "rbm4"
        },
        {
          "symbol": "RBM4B",
          "ensemblId": "ENSG00000173914",
          "biotype": "protein_coding",
          "start": 66664994,
          "end": 66677925,
          "strand": "-",
          "slug": "rbm4b"
        },
        {
          "symbol": "SPTBN2",
          "ensemblId": "ENSG00000173898",
          "biotype": "protein_coding",
          "start": 66682496,
          "end": 66744670,
          "strand": "-",
          "slug": "sptbn2"
        },
        {
          "symbol": "TOP6BL",
          "ensemblId": "ENSG00000173715",
          "biotype": "protein_coding",
          "start": 66744451,
          "end": 66843516,
          "strand": "+",
          "slug": "top6bl"
        },
        {
          "symbol": "RCE1",
          "ensemblId": "ENSG00000173653",
          "biotype": "protein_coding",
          "start": 66842835,
          "end": 66848159,
          "strand": "+",
          "slug": "rce1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-muscular-dystrophies",
        "name": "Wrodzone dystrofie mięśniowe",
        "diseases": [
          {
            "mondoId": "MONDO:0019950",
            "name": "Wrodzona dystrofia mięśniowa",
            "genes": 29,
            "inheritance": null,
            "description": "Grupa dystrofii mięśniowych ujawniających się przy urodzeniu lub w niemowlęctwie, w tym dystroglikanopatie (takie jak postacie związane z FKRP, FKTN i POMT1/2).",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/congenital-muscular-dystrophies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "11-pairs-of-ribs",
        "name": "11 pairs of ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/11-pairs-of-ribs"
      },
      {
        "slug": "abnormal-cerebellar-vermis-morphology",
        "name": "Abnormal cerebellar vermis morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebellar-vermis-morphology"
      },
      {
        "slug": "abnormal-cerebral-white-matter-morphology",
        "name": "Abnormal cerebral white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology"
      },
      {
        "slug": "abnormal-circulating-aldolase-concentration",
        "name": "Abnormal circulating aldolase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-aldolase-concentration"
      },
      {
        "slug": "abnormal-circulating-lactate-dehydrogenase-concentration",
        "name": "Abnormal circulating lactate dehydrogenase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-lactate-dehydrogenase-concentration"
      },
      {
        "slug": "abnormal-cortical-gyration",
        "name": "Abnormal cortical gyration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cortical-gyration"
      },
      {
        "slug": "abnormal-circulating-creatine-kinase-activity",
        "name": "Abnormal levels of creatine kinase in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-creatine-kinase-activity"
      },
      {
        "slug": "abnormality-of-neuronal-migration",
        "name": "Abnormality of neuronal migration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-neuronal-migration"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "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": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "anophthalmia",
        "name": "Absence of eyeballs",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anophthalmia"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "absent-septum-pellucidum",
        "name": "Absent septum pellucidum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-septum-pellucidum"
      },
      {
        "slug": "aplasia-hypoplasia-involving-the-skeletal-musculature",
        "name": "Absent/small skeletal muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-involving-the-skeletal-musculature"
      },
      {
        "slug": "agenesis-of-cerebellar-vermis",
        "name": "Agenesis of cerebellar vermis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/agenesis-of-cerebellar-vermis"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "anencephaly",
        "name": "Anencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/anencephaly"
      },
      {
        "slug": "bifid-uvula",
        "name": "Bifid uvula",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bifid-uvula"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "occipital-encephalocele",
        "name": "Brain tissue sticks out through back of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/occipital-encephalocele"
      },
      {
        "slug": "retinal-dystrophy",
        "name": "Breakdown of light-sensitive cells in back of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/retinal-dystrophy"
      },
      {
        "slug": "iris-coloboma",
        "name": "Cat eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/iris-coloboma"
      },
      {
        "slug": "cerebellar-hemisphere-hypoplasia",
        "name": "Cerebellar hemisphere hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-hemisphere-hypoplasia"
      },
      {
        "slug": "chorioretinal-dysplasia",
        "name": "Chorioretinal dysplasia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/chorioretinal-dysplasia"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "communicating-hydrocephalus",
        "name": "Communicating hydrocephalus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/communicating-hydrocephalus"
      },
      {
        "slug": "microcornea",
        "name": "Cornea of eye less than 10mm in diameter",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcornea"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "cortical-dysplasia",
        "name": "Cortical dysplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cortical-dysplasia"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/dandy-walker-malformation"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "decreased-testicular-size",
        "name": "Decreased testicular size",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-testicular-size"
      },
      {
        "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": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "pachygyria",
        "name": "Fewer and broader ridges in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pachygyria"
      },
      {
        "slug": "lissencephaly",
        "name": "Fewer or absent grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lissencephaly"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "gray-matter-heterotopia",
        "name": "Gray matter heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gray-matter-heterotopia"
      },
      {
        "slug": "hydromyelia",
        "name": "Hydromyelia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydromyelia"
      },
      {
        "slug": "hydronephrosis",
        "name": "Hydronephrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hydronephrosis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "metatarsus-valgus",
        "name": "Metatarsus valgus",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/metatarsus-valgus"
      },
      {
        "slug": "polymicrogyria",
        "name": "More grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/polymicrogyria"
      },
      {
        "slug": "multicystic-kidney-dysplasia",
        "name": "Multicystic kidney dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/multicystic-kidney-dysplasia"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "muscular-dystrophy",
        "name": "Muscular dystrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscular-dystrophy"
      },
      {
        "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": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-nerve-dysplasia",
        "name": "Optic nerve dysplasia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-nerve-dysplasia"
      },
      {
        "slug": "abnormal-optic-nerve-morphology",
        "name": "Optic nerve issue",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-optic-nerve-morphology"
      },
      {
        "slug": "protruding-ear",
        "name": "Prominent ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/protruding-ear"
      },
      {
        "slug": "retinal-detachment",
        "name": "Retinal detachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/retinal-detachment"
      },
      {
        "slug": "retinal-dysplasia",
        "name": "Retinal dysplasia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/retinal-dysplasia"
      },
      {
        "slug": "severe-muscular-hypotonia",
        "name": "Severely decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/severe-muscular-hypotonia"
      },
      {
        "slug": "micropenis",
        "name": "Short penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/micropenis"
      },
      {
        "slug": "hypoplasia-of-the-brainstem",
        "name": "Small brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-brainstem"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "submucous-cleft-hard-palate",
        "name": "Submucous cleft hard palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/submucous-cleft-hard-palate"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "type-ii-lissencephaly",
        "name": "Type II lissencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/type-ii-lissencephaly"
      },
      {
        "slug": "hypoplasia-of-penis",
        "name": "Underdeveloped penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-penis"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      }
    ],
    "related": [
      {
        "slug": "b3galnt2",
        "symbol": "B3GALNT2",
        "name": "beta-1,3-N-acetylgalactosaminyltransferase 2",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/b3galnt2"
      },
      {
        "slug": "chkb",
        "symbol": "CHKB",
        "name": "choline kinase beta",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/chkb"
      },
      {
        "slug": "col12a1",
        "symbol": "COL12A1",
        "name": "collagen type XII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/col12a1"
      },
      {
        "slug": "col6a1",
        "symbol": "COL6A1",
        "name": "collagen type VI alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/col6a1"
      },
      {
        "slug": "col6a2",
        "symbol": "COL6A2",
        "name": "collagen type VI alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/col6a2"
      },
      {
        "slug": "col6a3",
        "symbol": "COL6A3",
        "name": "collagen type VI alpha 3 chain",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/col6a3"
      },
      {
        "slug": "crppa",
        "symbol": "CRPPA",
        "name": "CDP-L-ribitol pyrophosphorylase A",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/crppa"
      },
      {
        "slug": "dag1",
        "symbol": "DAG1",
        "name": "dystroglycan 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/dag1"
      },
      {
        "slug": "dok7",
        "symbol": "DOK7",
        "name": "docking protein 7",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/dok7"
      },
      {
        "slug": "dpm2",
        "symbol": "DPM2",
        "name": "dolichyl-phosphate mannosyltransferase subunit 2, regulatory",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/dpm2"
      },
      {
        "slug": "dpm3",
        "symbol": "DPM3",
        "name": "dolichyl-phosphate mannosyltransferase subunit 3, regulatory",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/dpm3"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "name": "fukutin related protein",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/fkrp"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}