{
  "url": "https://dantelabs.com/it/genes/cog8",
  "gene": {
    "slug": "cog8",
    "symbol": "COG8",
    "name": "component of oligomeric golgi complex 8",
    "hgnc": "HGNC:18623",
    "summary": null,
    "location": "16q22.1",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ22315",
      "DOR1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000213380",
    "entrezId": 84342,
    "omim": [
      "606979"
    ],
    "uniprot": [
      "Q96MW5"
    ],
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      "release": "v1.5",
      "chrom": "16",
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      "end": 69339564,
      "strand": "-",
      "ensemblTranscript": "ENST00000306875.10",
      "refseqTranscript": "NM_032382.5",
      "ensemblProtein": "ENSP00000305459.6",
      "refseqProtein": "NP_115758.3",
      "exons": [
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        }
      ],
      "cds": {
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      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 69354043,
      "end": 69373570,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 68832996,
      "end": 69832995,
      "genes": [
        {
          "symbol": "CDH1",
          "ensemblId": "ENSG00000039068",
          "biotype": "protein_coding",
          "start": 68737242,
          "end": 68835543,
          "strand": "+",
          "slug": "cdh1"
        },
        {
          "symbol": "TANGO6",
          "ensemblId": "ENSG00000103047",
          "biotype": "protein_coding",
          "start": 68843517,
          "end": 69086516,
          "strand": "+",
          "slug": "tango6"
        },
        {
          "symbol": "HAS3",
          "ensemblId": "ENSG00000103044",
          "biotype": "protein_coding",
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          "end": 69121460,
          "strand": "+",
          "slug": "has3"
        },
        {
          "symbol": "DERPC",
          "ensemblId": "ENSG00000286140",
          "biotype": "protein_coding",
          "start": 69117665,
          "end": 69132588,
          "strand": "-",
          "slug": "derpc"
        },
        {
          "symbol": "CHTF8",
          "ensemblId": "ENSG00000168802",
          "biotype": "protein_coding",
          "start": 69118009,
          "end": 69132849,
          "strand": "-",
          "slug": "chtf8"
        },
        {
          "symbol": "UTP4",
          "ensemblId": "ENSG00000141076",
          "biotype": "protein_coding",
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          "end": 69231130,
          "strand": "+",
          "slug": "utp4"
        },
        {
          "symbol": "SNTB2",
          "ensemblId": "ENSG00000168807",
          "biotype": "protein_coding",
          "start": 69187140,
          "end": 69309052,
          "strand": "+",
          "slug": "sntb2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000260914",
          "biotype": "protein_coding",
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          "end": 69322700,
          "strand": "+"
        },
        {
          "symbol": "VPS4A",
          "ensemblId": "ENSG00000132612",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "vps4a"
        },
        {
          "symbol": "PDF",
          "ensemblId": "ENSG00000258429",
          "biotype": "protein_coding",
          "start": 69321991,
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          "strand": "-",
          "slug": "pdf"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000272617",
          "biotype": "protein_coding",
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          "strand": "-"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000260371",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000259900",
          "biotype": "protein_coding",
          "start": 69335276,
          "end": 69351730,
          "strand": "-"
        },
        {
          "symbol": "NIP7",
          "ensemblId": "ENSG00000132603",
          "biotype": "protein_coding",
          "start": 69337996,
          "end": 69343107,
          "strand": "+",
          "slug": "nip7"
        },
        {
          "symbol": "TMED6",
          "ensemblId": "ENSG00000157315",
          "biotype": "protein_coding",
          "start": 69343018,
          "end": 69351811,
          "strand": "-",
          "slug": "tmed6"
        },
        {
          "symbol": "TERF2",
          "ensemblId": "ENSG00000132604",
          "biotype": "protein_coding",
          "start": 69355464,
          "end": 69408571,
          "strand": "-",
          "slug": "terf2"
        },
        {
          "symbol": "CYB5B",
          "ensemblId": "ENSG00000103018",
          "biotype": "protein_coding",
          "start": 69398402,
          "end": 69480778,
          "strand": "+",
          "slug": "cyb5b"
        },
        {
          "symbol": "NFAT5",
          "ensemblId": "ENSG00000102908",
          "biotype": "protein_coding",
          "start": 69565094,
          "end": 69704666,
          "strand": "+",
          "slug": "nfat5"
        },
        {
          "symbol": "NQO1",
          "ensemblId": "ENSG00000181019",
          "biotype": "protein_coding",
          "start": 69691310,
          "end": 69726668,
          "strand": "-",
          "slug": "nqo1"
        },
        {
          "symbol": "NOB1",
          "ensemblId": "ENSG00000141101",
          "biotype": "protein_coding",
          "start": 69741871,
          "end": 69754943,
          "strand": "-",
          "slug": "nob1"
        },
        {
          "symbol": "WWP2",
          "ensemblId": "ENSG00000198373",
          "biotype": "protein_coding",
          "start": 69762281,
          "end": 69944553,
          "strand": "+",
          "slug": "wwp2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "disorder-of-glycosylation",
        "name": "Glicosilazione congenita disturbata (CDG)",
        "diseases": [
          {
            "mondoId": "MONDO:0015286",
            "name": "Glicosilazione congenita disturbata (CDG)",
            "genes": 98,
            "inheritance": null,
            "description": "Un ampio gruppo di condizioni ereditarie in cui le catene di zuccheri (glicani) non vengono costruite o attaccate correttamente a proteine e lipidi, con effetti spesso su cervello, fegato, coagulazione del sangue, crescita e molti altri sistemi dell'organismo. La maggior parte è autosomica recessiva, ma alcune sono legate al cromosoma X o autosomiche dominanti.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/it/conditions/disorder-of-glycosylation"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-brain-lactate-level-by-mrs",
        "name": "Abnormal brain lactate level by MRS",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-brain-lactate-level-by-mrs"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "absent-achilles-reflex",
        "name": "Absent ankle reflexes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-achilles-reflex"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "action-myoclonus",
        "name": "Action myoclonus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/action-myoclonus"
      },
      {
        "slug": "acute-encephalopathy",
        "name": "Acute encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/acute-encephalopathy"
      },
      {
        "slug": "agenesis-of-cerebellar-vermis",
        "name": "Agenesis of cerebellar vermis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "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": "obligate",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "alternating-esotropia",
        "name": "Alternating cross eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/alternating-esotropia"
      },
      {
        "slug": "ankle-flexion-contracture",
        "name": "Ankle flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ankle-flexion-contracture"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "atrophy-degeneration-affecting-the-brainstem",
        "name": "Atrophy/Degeneration affecting the brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/atrophy-degeneration-affecting-the-brainstem"
      },
      {
        "slug": "bilateral-coxa-valga",
        "name": "Bilateral coxa valga",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bilateral-coxa-valga"
      },
      {
        "slug": "chronic-axonal-neuropathy",
        "name": "Chronic axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-axonal-neuropathy"
      },
      {
        "slug": "claw-hand-deformity",
        "name": "Claw hand deformity",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/claw-hand-deformity"
      },
      {
        "slug": "coxa-valga",
        "name": "Coxa valga",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coxa-valga"
      },
      {
        "slug": "clinodactyly-of-the-3rd-toe",
        "name": "Curvature of 3rd toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-3rd-toe"
      },
      {
        "slug": "clinodactyly-of-the-4th-toe",
        "name": "Curvature of 4th toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-4th-toe"
      },
      {
        "slug": "finger-clinodactyly",
        "name": "Curvature of finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/finger-clinodactyly"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/dandy-walker-malformation"
      },
      {
        "slug": "floppy-infant",
        "name": "Decreased muscle tone in infant",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/floppy-infant"
      },
      {
        "slug": "thin-vermilion-border",
        "name": "Decreased volume of lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thin-vermilion-border"
      },
      {
        "slug": "deep-philtrum",
        "name": "Deep philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/deep-philtrum"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "secondary-microcephaly",
        "name": "Development of small head that was not present at birth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/secondary-microcephaly"
      },
      {
        "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": "elevated-circulating-aspartate-aminotransferase-concentration",
        "name": "Elevated circulating aspartate aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration"
      },
      {
        "slug": "elevated-serum-transaminases-during-infections",
        "name": "Elevated serum transaminases during infections",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-serum-transaminases-during-infections"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "food-intolerance",
        "name": "Food intolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/food-intolerance"
      },
      {
        "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": "hand-clenching",
        "name": "Hand clenching",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hand-clenching"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "knee-flexion-contracture",
        "name": "Inability to straighten knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/knee-flexion-contracture"
      },
      {
        "slug": "increased-nuchal-translucency",
        "name": "Increased nuchal translucency",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-nuchal-translucency"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "interface-hepatitis",
        "name": "Interface hepatitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/interface-hepatitis"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "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": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "oculomotor-apraxia",
        "name": "Oculomotor apraxia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/oculomotor-apraxia"
      },
      {
        "slug": "camptodactyly",
        "name": "Permanent flexion of the finger or toe",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/camptodactyly"
      },
      {
        "slug": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "poor-speech",
        "name": "Poor speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/poor-speech"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "progressive-microcephaly",
        "name": "Progressively abnormally small cranium",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/progressive-microcephaly"
      },
      {
        "slug": "prolonged-prothrombin-time",
        "name": "Prolonged prothrombin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prolonged-prothrombin-time"
      },
      {
        "slug": "protein-losing-enteropathy",
        "name": "Protein-losing enteropathy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/protein-losing-enteropathy"
      },
      {
        "slug": "reduced-protein-s-activity",
        "name": "Reduced protein S activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-protein-s-activity"
      },
      {
        "slug": "status-epilepticus",
        "name": "Repeated seizures without recovery between them",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/status-epilepticus"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "short-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "spontaneous-hematomas",
        "name": "Spontaneous hematomas",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spontaneous-hematomas"
      },
      {
        "slug": "thickened-nuchal-skin-fold",
        "name": "Thickened skin folds of neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thickened-nuchal-skin-fold"
      },
      {
        "slug": "type-ii-transferrin-isoform-profile",
        "name": "Type II transferrin isoform profile",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/type-ii-transferrin-isoform-profile"
      },
      {
        "slug": "upslanted-palpebral-fissure",
        "name": "Upward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "wide-nose",
        "name": "Wide nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wide-nose"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "wide-anterior-fontanel",
        "name": "Wider-than-typical soft spot of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wide-anterior-fontanel"
      }
    ],
    "related": [
      {
        "slug": "a4galt",
        "symbol": "A4GALT",
        "name": "alpha 1,4-galactosyltransferase (P1PK blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/a4galt"
      },
      {
        "slug": "alg1",
        "symbol": "ALG1",
        "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg1"
      },
      {
        "slug": "alg11",
        "symbol": "ALG11",
        "name": "ALG11 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg11"
      },
      {
        "slug": "alg12",
        "symbol": "ALG12",
        "name": "ALG12 alpha-1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg12"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg13"
      },
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg14"
      },
      {
        "slug": "alg2",
        "symbol": "ALG2",
        "name": "ALG2 alpha-1,3/1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg2"
      },
      {
        "slug": "alg3",
        "symbol": "ALG3",
        "name": "ALG3 alpha-1,3- mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg3"
      },
      {
        "slug": "alg6",
        "symbol": "ALG6",
        "name": "ALG6 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg6"
      },
      {
        "slug": "alg8",
        "symbol": "ALG8",
        "name": "ALG8 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg8"
      },
      {
        "slug": "alg9",
        "symbol": "ALG9",
        "name": "ALG9 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg9"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/atp6ap1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}