{
  "url": "https://dantelabs.com/fi/genes/mogs",
  "gene": {
    "slug": "mogs",
    "symbol": "MOGS",
    "name": "mannosyl-oligosaccharide glucosidase",
    "hgnc": "HGNC:24862",
    "summary": null,
    "location": "2p13.1",
    "locusType": "gene with protein product",
    "aliases": [
      "GCS1",
      "CWH41",
      "DER7"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000115275",
    "entrezId": 7841,
    "omim": [
      "601336"
    ],
    "uniprot": [
      "Q13724"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 74461057,
      "end": 74465382,
      "strand": "-",
      "ensemblTranscript": "ENST00000448666.7",
      "refseqTranscript": "NM_006302.3",
      "ensemblProtein": "ENSP00000410992.3",
      "refseqProtein": "NP_006293.2",
      "exons": [
        {
          "start": 74461057,
          "end": 74463012
        },
        {
          "start": 74463190,
          "end": 74463386
        },
        {
          "start": 74464496,
          "end": 74464722
        },
        {
          "start": 74464896,
          "end": 74465382
        }
      ],
      "cds": {
        "start": 74461275,
        "end": 74465247
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 74688184,
      "end": 74692537,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 73963220,
      "end": 74963219,
      "genes": [
        {
          "symbol": "TET3",
          "ensemblId": "ENSG00000187605",
          "biotype": "protein_coding",
          "start": 73984910,
          "end": 74108177,
          "strand": "+",
          "slug": "tet3"
        },
        {
          "symbol": "BOLA3",
          "ensemblId": "ENSG00000163170",
          "biotype": "protein_coding",
          "start": 74133333,
          "end": 74147977,
          "strand": "-",
          "slug": "bola3"
        },
        {
          "symbol": "MOB1A",
          "ensemblId": "ENSG00000114978",
          "biotype": "protein_coding",
          "start": 74152528,
          "end": 74178932,
          "strand": "-",
          "slug": "mob1a"
        },
        {
          "symbol": "MTHFD2",
          "ensemblId": "ENSG00000065911",
          "biotype": "protein_coding",
          "start": 74186172,
          "end": 74218432,
          "strand": "+",
          "slug": "mthfd2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000264324",
          "biotype": "protein_coding",
          "start": 74211604,
          "end": 74363377,
          "strand": "-"
        },
        {
          "symbol": "SLC4A5",
          "ensemblId": "ENSG00000188687",
          "biotype": "protein_coding",
          "start": 74216242,
          "end": 74343416,
          "strand": "-",
          "slug": "slc4a5"
        },
        {
          "symbol": "DCTN1",
          "ensemblId": "ENSG00000204843",
          "biotype": "protein_coding",
          "start": 74361154,
          "end": 74392087,
          "strand": "-",
          "slug": "dctn1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000159239",
          "biotype": "protein_coding",
          "start": 74393836,
          "end": 74421662,
          "strand": "-"
        },
        {
          "symbol": "C2orf81",
          "ensemblId": "ENSG00000284308",
          "biotype": "protein_coding",
          "start": 74414176,
          "end": 74421655,
          "strand": "-",
          "slug": "c2orf81"
        },
        {
          "symbol": "WDR54",
          "ensemblId": "ENSG00000005448",
          "biotype": "protein_coding",
          "start": 74421477,
          "end": 74425770,
          "strand": "+",
          "slug": "wdr54"
        },
        {
          "symbol": "RTKN",
          "ensemblId": "ENSG00000114993",
          "biotype": "protein_coding",
          "start": 74424131,
          "end": 74442422,
          "strand": "-",
          "slug": "rtkn"
        },
        {
          "symbol": "INO80B",
          "ensemblId": "ENSG00000115274",
          "biotype": "protein_coding",
          "start": 74455078,
          "end": 74457958,
          "strand": "+",
          "slug": "ino80b"
        },
        {
          "symbol": "INO80B-WBP1",
          "ensemblId": "ENSG00000274049",
          "biotype": "protein_coding",
          "start": 74455088,
          "end": 74460884,
          "strand": "+",
          "slug": "ino80b-wbp1"
        },
        {
          "symbol": "WBP1",
          "ensemblId": "ENSG00000239779",
          "biotype": "protein_coding",
          "start": 74458263,
          "end": 74461077,
          "strand": "+",
          "slug": "wbp1"
        },
        {
          "symbol": "CCDC142",
          "ensemblId": "ENSG00000135637",
          "biotype": "protein_coding",
          "start": 74471957,
          "end": 74483408,
          "strand": "-",
          "slug": "ccdc142"
        },
        {
          "symbol": "MRPL53",
          "ensemblId": "ENSG00000204822",
          "biotype": "protein_coding",
          "start": 74471957,
          "end": 74472699,
          "strand": "-",
          "slug": "mrpl53"
        },
        {
          "symbol": "TTC31",
          "ensemblId": "ENSG00000115282",
          "biotype": "protein_coding",
          "start": 74482617,
          "end": 74496915,
          "strand": "+",
          "slug": "ttc31"
        },
        {
          "symbol": "LBX2",
          "ensemblId": "ENSG00000179528",
          "biotype": "protein_coding",
          "start": 74497455,
          "end": 74503316,
          "strand": "-",
          "slug": "lbx2"
        },
        {
          "symbol": "PCGF1",
          "ensemblId": "ENSG00000115289",
          "biotype": "protein_coding",
          "start": 74505041,
          "end": 74508361,
          "strand": "-",
          "slug": "pcgf1"
        },
        {
          "symbol": "TLX2",
          "ensemblId": "ENSG00000115297",
          "biotype": "protein_coding",
          "start": 74513463,
          "end": 74517148,
          "strand": "+",
          "slug": "tlx2"
        },
        {
          "symbol": "DQX1",
          "ensemblId": "ENSG00000144045",
          "biotype": "protein_coding",
          "start": 74518131,
          "end": 74526396,
          "strand": "-",
          "slug": "dqx1"
        },
        {
          "symbol": "AUP1",
          "ensemblId": "ENSG00000115307",
          "biotype": "protein_coding",
          "start": 74526636,
          "end": 74529966,
          "strand": "-",
          "slug": "aup1"
        },
        {
          "symbol": "HTRA2",
          "ensemblId": "ENSG00000115317",
          "biotype": "protein_coding",
          "start": 74529274,
          "end": 74533966,
          "strand": "+",
          "slug": "htra2"
        },
        {
          "symbol": "LOXL3",
          "ensemblId": "ENSG00000115318",
          "biotype": "protein_coding",
          "start": 74531716,
          "end": 74555718,
          "strand": "-",
          "slug": "loxl3"
        },
        {
          "symbol": "DOK1",
          "ensemblId": "ENSG00000115325",
          "biotype": "protein_coding",
          "start": 74548875,
          "end": 74557554,
          "strand": "+",
          "slug": "dok1"
        },
        {
          "symbol": "M1AP",
          "ensemblId": "ENSG00000159374",
          "biotype": "protein_coding",
          "start": 74557883,
          "end": 74648350,
          "strand": "-",
          "slug": "m1ap"
        },
        {
          "symbol": "SEMA4F",
          "ensemblId": "ENSG00000135622",
          "biotype": "protein_coding",
          "start": 74654226,
          "end": 74707584,
          "strand": "+",
          "slug": "sema4f"
        },
        {
          "symbol": "HK2",
          "ensemblId": "ENSG00000159399",
          "biotype": "protein_coding",
          "start": 74834077,
          "end": 74893359,
          "strand": "+",
          "slug": "hk2"
        },
        {
          "symbol": "POLE4",
          "ensemblId": "ENSG00000115350",
          "biotype": "protein_coding",
          "start": 74958636,
          "end": 75147205,
          "strand": "+",
          "slug": "pole4"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "disorder-of-glycosylation",
        "name": "Synnynnäiset glykosylaatiohäiriöt",
        "diseases": [
          {
            "mondoId": "MONDO:0015286",
            "name": "Synnynnäiset glykosylaatiohäiriöt (CDG)",
            "genes": 98,
            "inheritance": null,
            "description": "Laaja joukko perinnöllisiä sairauksia, joissa sokeriketjuja (glykaaneja) ei rakenneta tai kiinnitetä oikein proteiineihin ja rasvoihin. Ne vaikuttavat usein aivoihin, maksaan, veren hyytymiseen, kasvuun ja moniin muihin elimistön järjestelmiin. Useimmat periytyvät autosomaalisesti resessiivisesti, mutta osa on X-kromosomaalisia tai autosomaalisesti dominantteja.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/disorder-of-glycosylation"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "abnormality-of-visual-evoked-potentials",
        "name": "Abnormality of visual evoked potentials",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-visual-evoked-potentials"
      },
      {
        "slug": "absent-brainstem-auditory-responses",
        "name": "Absent brainstem auditory responses",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absent-brainstem-auditory-responses"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "bone-fracture",
        "name": "Bone fracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bone-fracture"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "chronic-constipation",
        "name": "Chronic constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-constipation"
      },
      {
        "slug": "decreased-circulating-immunoglobulin-concentration",
        "name": "Decreased circulating antibody level",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "decreased-circulating-iga-concentration",
        "name": "Decreased circulating IgA concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-iga-concentration"
      },
      {
        "slug": "decreased-circulating-igg-concentration",
        "name": "Decreased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration"
      },
      {
        "slug": "decreased-circulating-igm-concentration",
        "name": "Decreased circulating IgM concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-igm-concentration"
      },
      {
        "slug": "floppy-infant",
        "name": "Decreased muscle tone in infant",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/floppy-infant"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "demyelinating-peripheral-neuropathy",
        "name": "Demyelinating peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/demyelinating-peripheral-neuropathy"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "eeg-with-burst-suppression",
        "name": "EEG with burst suppression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/eeg-with-burst-suppression"
      },
      {
        "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": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "pulmonary-edema",
        "name": "Excess fluid in lungs",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-edema"
      },
      {
        "slug": "hirsutism",
        "name": "Excessive hairiness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hirsutism"
      },
      {
        "slug": "fair-hair",
        "name": "Fair hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fair-hair"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-edema",
        "name": "Generalized edema",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-edema"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "hand-clenching",
        "name": "Hand clenching",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hand-clenching"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "hydrocele-testis",
        "name": "Hydrocele testis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydrocele-testis"
      },
      {
        "slug": "inappropriate-antidiuretic-hormone-secretion",
        "name": "Inappropriate antidiuretic hormone secretion",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inappropriate-antidiuretic-hormone-secretion"
      },
      {
        "slug": "left-ventricular-hypertrophy",
        "name": "Left ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy"
      },
      {
        "slug": "long-eyelashes",
        "name": "Long eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/long-eyelashes"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "blepharophimosis",
        "name": "Narrow opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/blepharophimosis"
      },
      {
        "slug": "nasogastric-tube-feeding",
        "name": "Nasogastric tube feeding",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nasogastric-tube-feeding"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "overlapping-fingers",
        "name": "Overlapping fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/overlapping-fingers"
      },
      {
        "slug": "prominent-occiput",
        "name": "Prominent back of the head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prominent-occiput"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "reduced-tissue-mannosyl-oligosaccharide-glucosidase-activity",
        "name": "Reduced tissue mannosyl-oligosaccharide glucosidase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-tissue-mannosyl-oligosaccharide-glucosidase-activity"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "short-palpebral-fissure",
        "name": "Short opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-palpebral-fissure"
      },
      {
        "slug": "hypoventilation",
        "name": "Slow breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoventilation"
      },
      {
        "slug": "thoracic-scoliosis",
        "name": "Thoracic scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thoracic-scoliosis"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "hypoplastic-female-external-genitalia",
        "name": "Underdeveloped female external genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplastic-female-external-genitalia"
      },
      {
        "slug": "external-genital-hypoplasia",
        "name": "Underdevelopment of external reproductive organs",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/external-genital-hypoplasia"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "wide-nose",
        "name": "Wide nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-nose"
      }
    ],
    "related": [
      {
        "slug": "a4galt",
        "symbol": "A4GALT",
        "name": "alpha 1,4-galactosyltransferase (P1PK blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/a4galt"
      },
      {
        "slug": "alg1",
        "symbol": "ALG1",
        "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/alg1"
      },
      {
        "slug": "alg11",
        "symbol": "ALG11",
        "name": "ALG11 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/alg11"
      },
      {
        "slug": "alg12",
        "symbol": "ALG12",
        "name": "ALG12 alpha-1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/alg12"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/alg13"
      },
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/alg14"
      },
      {
        "slug": "alg2",
        "symbol": "ALG2",
        "name": "ALG2 alpha-1,3/1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/alg2"
      },
      {
        "slug": "alg3",
        "symbol": "ALG3",
        "name": "ALG3 alpha-1,3- mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/alg3"
      },
      {
        "slug": "alg6",
        "symbol": "ALG6",
        "name": "ALG6 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/alg6"
      },
      {
        "slug": "alg8",
        "symbol": "ALG8",
        "name": "ALG8 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/alg8"
      },
      {
        "slug": "alg9",
        "symbol": "ALG9",
        "name": "ALG9 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/alg9"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/atp6ap1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}