{
  "url": "https://dantelabs.com/el/genes/b3galnt2",
  "gene": {
    "slug": "b3galnt2",
    "symbol": "B3GALNT2",
    "name": "beta-1,3-N-acetylgalactosaminyltransferase 2",
    "hgnc": "HGNC:28596",
    "summary": null,
    "location": "1q42.3",
    "locusType": "gene with protein product",
    "aliases": [
      "MGC39558"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000162885",
    "entrezId": 148789,
    "omim": [
      "610194"
    ],
    "uniprot": [
      "Q8NCR0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 235447190,
      "end": 235504452,
      "strand": "-",
      "ensemblTranscript": "ENST00000366600.8",
      "refseqTranscript": "NM_152490.5",
      "ensemblProtein": "ENSP00000355559.3",
      "refseqProtein": "NP_689703.1",
      "exons": [
        {
          "start": 235447190,
          "end": 235450340
        },
        {
          "start": 235453090,
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        },
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        },
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        {
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        },
        {
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          "end": 235504452
        }
      ],
      "cds": {
        "start": 235450206,
        "end": 235504252
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 235613238,
      "end": 235667781,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 234975821,
      "end": 235975820,
      "genes": [
        {
          "symbol": "TOMM20",
          "ensemblId": "ENSG00000173726",
          "biotype": "protein_coding",
          "start": 235109337,
          "end": 235128962,
          "strand": "-",
          "slug": "tomm20"
        },
        {
          "symbol": "RBM34",
          "ensemblId": "ENSG00000188739",
          "biotype": "protein_coding",
          "start": 235131183,
          "end": 235161627,
          "strand": "-",
          "slug": "rbm34"
        },
        {
          "symbol": "ARID4B",
          "ensemblId": "ENSG00000054267",
          "biotype": "protein_coding",
          "start": 235131634,
          "end": 235328800,
          "strand": "-",
          "slug": "arid4b"
        },
        {
          "symbol": "GGPS1",
          "ensemblId": "ENSG00000152904",
          "biotype": "protein_coding",
          "start": 235327350,
          "end": 235344544,
          "strand": "+",
          "slug": "ggps1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285053",
          "biotype": "protein_coding",
          "start": 235328570,
          "end": 235448952,
          "strand": "+"
        },
        {
          "symbol": "TBCE",
          "ensemblId": "ENSG00000284770",
          "biotype": "protein_coding",
          "start": 235367360,
          "end": 235452443,
          "strand": "+",
          "slug": "tbce"
        },
        {
          "symbol": "GNG4",
          "ensemblId": "ENSG00000168243",
          "biotype": "protein_coding",
          "start": 235547685,
          "end": 235651096,
          "strand": "-",
          "slug": "gng4"
        },
        {
          "symbol": "LYST",
          "ensemblId": "ENSG00000143669",
          "biotype": "protein_coding",
          "start": 235661041,
          "end": 235883724,
          "strand": "-",
          "slug": "lyst"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-muscular-dystrophies",
        "name": "Συγγενείς μυϊκές δυστροφίες",
        "diseases": [
          {
            "mondoId": "MONDO:0019950",
            "name": "Συγγενής μυϊκή δυστροφία",
            "genes": 29,
            "inheritance": null,
            "description": "Ομάδα μυϊκών δυστροφιών με έναρξη κατά τη γέννηση ή στη βρεφική ηλικία, συμπεριλαμβανομένων των διστρογλυκανοπαθειών (όπως μορφές που σχετίζονται με τα FKRP, FKTN και POMT1/2).",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/congenital-muscular-dystrophies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "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-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": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "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": "abnormal-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "slug": "abnormality-of-movement",
        "name": "Abnormality of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-movement"
      },
      {
        "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": "abnormality-of-the-voice",
        "name": "Abnormality of the voice",
        "systems": [],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-voice"
      },
      {
        "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-of-the-cerebellum",
        "name": "Absent/small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-cerebellum"
      },
      {
        "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-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": "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"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "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-cyst",
        "name": "Cerebellar cyst",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-cyst"
      },
      {
        "slug": "cerebellar-dysplasia",
        "name": "Cerebellar dysplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-dysplasia"
      },
      {
        "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": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "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": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "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": "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": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "emg-abnormality",
        "name": "EMG abnormality",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/emg-abnormality"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "holoprosencephaly",
        "name": "Holoprosencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/holoprosencephaly"
      },
      {
        "slug": "hypoplasia-of-the-pons",
        "name": "Hypoplasia of the pons",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-pons"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "leukoencephalopathy",
        "name": "Leukoencephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/leukoencephalopathy"
      },
      {
        "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": "meningocele",
        "name": "Meningocele",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/meningocele"
      },
      {
        "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": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "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": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-nerve-hypoplasia",
        "name": "Optic nerve hypoplasia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-nerve-hypoplasia"
      },
      {
        "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": "hemiplegia-hemiparesis",
        "name": "Paralysis or weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis"
      },
      {
        "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"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/severe-muscular-hypotonia"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "b4gat1",
        "symbol": "B4GAT1",
        "name": "beta-1,4-glucuronyltransferase 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/b4gat1"
      },
      {
        "slug": "chkb",
        "symbol": "CHKB",
        "name": "choline kinase beta",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/chkb"
      },
      {
        "slug": "col12a1",
        "symbol": "COL12A1",
        "name": "collagen type XII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/col12a1"
      },
      {
        "slug": "col6a1",
        "symbol": "COL6A1",
        "name": "collagen type VI alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/col6a1"
      },
      {
        "slug": "col6a2",
        "symbol": "COL6A2",
        "name": "collagen type VI alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/col6a2"
      },
      {
        "slug": "col6a3",
        "symbol": "COL6A3",
        "name": "collagen type VI alpha 3 chain",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/col6a3"
      },
      {
        "slug": "crppa",
        "symbol": "CRPPA",
        "name": "CDP-L-ribitol pyrophosphorylase A",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/crppa"
      },
      {
        "slug": "dag1",
        "symbol": "DAG1",
        "name": "dystroglycan 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dag1"
      },
      {
        "slug": "dok7",
        "symbol": "DOK7",
        "name": "docking protein 7",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dok7"
      },
      {
        "slug": "dpm2",
        "symbol": "DPM2",
        "name": "dolichyl-phosphate mannosyltransferase subunit 2, regulatory",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dpm2"
      },
      {
        "slug": "dpm3",
        "symbol": "DPM3",
        "name": "dolichyl-phosphate mannosyltransferase subunit 3, regulatory",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dpm3"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "name": "fukutin related protein",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/fkrp"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}