{
  "url": "https://dantelabs.com/lt/genes/neu1",
  "gene": {
    "slug": "neu1",
    "symbol": "NEU1",
    "name": "neuraminidase 1",
    "hgnc": "HGNC:7758",
    "summary": null,
    "location": "6p21.33",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "NEU"
    ],
    "ensemblId": "ENSG00000204386",
    "entrezId": 4758,
    "omim": [
      "608272"
    ],
    "uniprot": [
      "Q99519"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 31857659,
      "end": 31862821,
      "strand": "-",
      "ensemblTranscript": "ENST00000375631.5",
      "refseqTranscript": "NM_000434.4",
      "ensemblProtein": "ENSP00000364782.4",
      "refseqProtein": "NP_000425.1",
      "exons": [
        {
          "start": 31857659,
          "end": 31859945
        },
        {
          "start": 31860042,
          "end": 31860264
        },
        {
          "start": 31860439,
          "end": 31860621
        },
        {
          "start": 31861188,
          "end": 31861450
        },
        {
          "start": 31861999,
          "end": 31862191
        },
        {
          "start": 31862618,
          "end": 31862821
        }
      ],
      "cds": {
        "start": 31859719,
        "end": 31862776
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 31825436,
      "end": 31830683,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 31360240,
      "end": 32360239,
      "genes": [
        {
          "symbol": "HLA-B",
          "ensemblId": "ENSG00000234745",
          "biotype": "protein_coding",
          "start": 31353195,
          "end": 31367067,
          "strand": "-",
          "slug": "hla-b"
        },
        {
          "symbol": "MICA",
          "ensemblId": "ENSG00000204520",
          "biotype": "protein_coding",
          "start": 31399784,
          "end": 31415315,
          "strand": "+",
          "slug": "mica"
        },
        {
          "symbol": "MICB",
          "ensemblId": "ENSG00000204516",
          "biotype": "protein_coding",
          "start": 31494881,
          "end": 31511124,
          "strand": "+",
          "slug": "micb"
        },
        {
          "symbol": "MCCD1",
          "ensemblId": "ENSG00000204511",
          "biotype": "protein_coding",
          "start": 31528962,
          "end": 31530232,
          "strand": "+",
          "slug": "mccd1"
        },
        {
          "symbol": "DDX39B",
          "ensemblId": "ENSG00000198563",
          "biotype": "protein_coding",
          "start": 31530217,
          "end": 31542451,
          "strand": "-",
          "slug": "ddx39b"
        },
        {
          "symbol": "ATP6V1G2-DDX39B",
          "ensemblId": "ENSG00000254870",
          "biotype": "protein_coding",
          "start": 31530219,
          "end": 31546608,
          "strand": "-",
          "slug": "atp6v1g2-ddx39b"
        },
        {
          "symbol": "ATP6V1G2",
          "ensemblId": "ENSG00000213760",
          "biotype": "protein_coding",
          "start": 31544444,
          "end": 31548427,
          "strand": "-",
          "slug": "atp6v1g2"
        },
        {
          "symbol": "NFKBIL1",
          "ensemblId": "ENSG00000204498",
          "biotype": "protein_coding",
          "start": 31546870,
          "end": 31558829,
          "strand": "+",
          "slug": "nfkbil1"
        },
        {
          "symbol": "LTA",
          "ensemblId": "ENSG00000226979",
          "biotype": "protein_coding",
          "start": 31572054,
          "end": 31574324,
          "strand": "+",
          "slug": "lta"
        },
        {
          "symbol": "TNF",
          "ensemblId": "ENSG00000232810",
          "biotype": "protein_coding",
          "start": 31575558,
          "end": 31578336,
          "strand": "+",
          "slug": "tnf"
        },
        {
          "symbol": "LTB",
          "ensemblId": "ENSG00000227507",
          "biotype": "protein_coding",
          "start": 31580525,
          "end": 31582522,
          "strand": "-",
          "slug": "ltb"
        },
        {
          "symbol": "LST1",
          "ensemblId": "ENSG00000204482",
          "biotype": "protein_coding",
          "start": 31581065,
          "end": 31588911,
          "strand": "+",
          "slug": "lst1"
        },
        {
          "symbol": "NCR3",
          "ensemblId": "ENSG00000204475",
          "biotype": "protein_coding",
          "start": 31588895,
          "end": 31593217,
          "strand": "-",
          "slug": "ncr3"
        },
        {
          "symbol": "AIF1",
          "ensemblId": "ENSG00000204472",
          "biotype": "protein_coding",
          "start": 31615214,
          "end": 31617025,
          "strand": "+",
          "slug": "aif1"
        },
        {
          "symbol": "PRRC2A",
          "ensemblId": "ENSG00000204469",
          "biotype": "protein_coding",
          "start": 31620675,
          "end": 31637771,
          "strand": "+",
          "slug": "prrc2a"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000291302",
          "biotype": "protein_coding",
          "start": 31622774,
          "end": 31622860,
          "strand": "+"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000289282",
          "biotype": "protein_coding",
          "start": 31623874,
          "end": 31625499,
          "strand": "+"
        },
        {
          "symbol": "BAG6",
          "ensemblId": "ENSG00000204463",
          "biotype": "protein_coding",
          "start": 31638543,
          "end": 31652747,
          "strand": "-",
          "slug": "bag6"
        },
        {
          "symbol": "APOM",
          "ensemblId": "ENSG00000204444",
          "biotype": "protein_coding",
          "start": 31652416,
          "end": 31658214,
          "strand": "+",
          "slug": "apom"
        },
        {
          "symbol": "C6orf47",
          "ensemblId": "ENSG00000204439",
          "biotype": "protein_coding",
          "start": 31658298,
          "end": 31660778,
          "strand": "-",
          "slug": "c6orf47"
        },
        {
          "symbol": "GPANK1",
          "ensemblId": "ENSG00000204438",
          "biotype": "protein_coding",
          "start": 31661228,
          "end": 31666283,
          "strand": "-",
          "slug": "gpank1"
        },
        {
          "symbol": "CSNK2B",
          "ensemblId": "ENSG00000204435",
          "biotype": "protein_coding",
          "start": 31665227,
          "end": 31670343,
          "strand": "+",
          "slug": "csnk2b"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000263020",
          "biotype": "protein_coding",
          "start": 31666102,
          "end": 31673546,
          "strand": "+"
        },
        {
          "symbol": "LY6G5B",
          "ensemblId": "ENSG00000240053",
          "biotype": "protein_coding",
          "start": 31669976,
          "end": 31673776,
          "strand": "+",
          "slug": "ly6g5b"
        },
        {
          "symbol": "LY6G5C",
          "ensemblId": "ENSG00000204428",
          "biotype": "protein_coding",
          "start": 31676684,
          "end": 31684040,
          "strand": "-",
          "slug": "ly6g5c"
        },
        {
          "symbol": "ABHD16A",
          "ensemblId": "ENSG00000204427",
          "biotype": "protein_coding",
          "start": 31686954,
          "end": 31703391,
          "strand": "-",
          "slug": "abhd16a"
        },
        {
          "symbol": "LY6G6F",
          "ensemblId": "ENSG00000204424",
          "biotype": "protein_coding",
          "start": 31706863,
          "end": 31710801,
          "strand": "+",
          "slug": "ly6g6f"
        },
        {
          "symbol": "LY6G6F-LY6G6D",
          "ensemblId": "ENSG00000250641",
          "biotype": "protein_coding",
          "start": 31706904,
          "end": 31717918,
          "strand": "+",
          "slug": "ly6g6f-ly6g6d"
        },
        {
          "symbol": "LY6G6D",
          "ensemblId": "ENSG00000244355",
          "biotype": "protein_coding",
          "start": 31715285,
          "end": 31717919,
          "strand": "+",
          "slug": "ly6g6d"
        },
        {
          "symbol": "MPIG6B",
          "ensemblId": "ENSG00000204420",
          "biotype": "protein_coding",
          "start": 31718594,
          "end": 31726714,
          "strand": "+",
          "slug": "mpig6b"
        },
        {
          "symbol": "LY6G6C",
          "ensemblId": "ENSG00000204421",
          "biotype": "protein_coding",
          "start": 31718648,
          "end": 31721746,
          "strand": "-",
          "slug": "ly6g6c"
        },
        {
          "symbol": "DDAH2",
          "ensemblId": "ENSG00000213722",
          "biotype": "protein_coding",
          "start": 31726586,
          "end": 31730617,
          "strand": "-",
          "slug": "ddah2"
        },
        {
          "symbol": "CLIC1",
          "ensemblId": "ENSG00000213719",
          "biotype": "protein_coding",
          "start": 31730579,
          "end": 31740558,
          "strand": "-",
          "slug": "clic1"
        },
        {
          "symbol": "MSH5",
          "ensemblId": "ENSG00000204410",
          "biotype": "protein_coding",
          "start": 31739677,
          "end": 31762678,
          "strand": "+",
          "slug": "msh5"
        },
        {
          "symbol": "MSH5-SAPCD1",
          "ensemblId": "ENSG00000255152",
          "biotype": "protein_coding",
          "start": 31740020,
          "end": 31764851,
          "strand": "+",
          "slug": "msh5-sapcd1"
        },
        {
          "symbol": "SAPCD1",
          "ensemblId": "ENSG00000228727",
          "biotype": "protein_coding",
          "start": 31762656,
          "end": 31764851,
          "strand": "+",
          "slug": "sapcd1"
        },
        {
          "symbol": "VWA7",
          "ensemblId": "ENSG00000204396",
          "biotype": "protein_coding",
          "start": 31765590,
          "end": 31777328,
          "strand": "-",
          "slug": "vwa7"
        },
        {
          "symbol": "VARS1",
          "ensemblId": "ENSG00000204394",
          "biotype": "protein_coding",
          "start": 31777518,
          "end": 31795975,
          "strand": "-",
          "slug": "vars1"
        },
        {
          "symbol": "LSM2",
          "ensemblId": "ENSG00000204392",
          "biotype": "protein_coding",
          "start": 31797019,
          "end": 31806992,
          "strand": "-",
          "slug": "lsm2"
        },
        {
          "symbol": "HSPA1L",
          "ensemblId": "ENSG00000204390",
          "biotype": "protein_coding",
          "start": 31809619,
          "end": 31815788,
          "strand": "-",
          "slug": "hspa1l"
        },
        {
          "symbol": "HSPA1A",
          "ensemblId": "ENSG00000204389",
          "biotype": "protein_coding",
          "start": 31815543,
          "end": 31817994,
          "strand": "+",
          "slug": "hspa1a"
        },
        {
          "symbol": "HSPA1B",
          "ensemblId": "ENSG00000204388",
          "biotype": "protein_coding",
          "start": 31827738,
          "end": 31830254,
          "strand": "+",
          "slug": "hspa1b"
        },
        {
          "symbol": "SLC44A4",
          "ensemblId": "ENSG00000204385",
          "biotype": "protein_coding",
          "start": 31863173,
          "end": 31879198,
          "strand": "-",
          "slug": "slc44a4"
        },
        {
          "symbol": "EHMT2",
          "ensemblId": "ENSG00000204371",
          "biotype": "protein_coding",
          "start": 31879758,
          "end": 31897723,
          "strand": "-",
          "slug": "ehmt2"
        },
        {
          "symbol": "C2",
          "ensemblId": "ENSG00000166278",
          "biotype": "protein_coding",
          "start": 31897785,
          "end": 31945677,
          "strand": "+",
          "slug": "c2"
        },
        {
          "symbol": "ZBTB12",
          "ensemblId": "ENSG00000204366",
          "biotype": "protein_coding",
          "start": 31899065,
          "end": 31902103,
          "strand": "-",
          "slug": "zbtb12"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000244255",
          "biotype": "protein_coding",
          "start": 31927698,
          "end": 31952048,
          "strand": "+"
        },
        {
          "symbol": "CFB",
          "ensemblId": "ENSG00000243649",
          "biotype": "protein_coding",
          "start": 31945650,
          "end": 31952086,
          "strand": "+",
          "slug": "cfb"
        },
        {
          "symbol": "NELFE",
          "ensemblId": "ENSG00000204356",
          "biotype": "protein_coding",
          "start": 31952087,
          "end": 31959079,
          "strand": "-",
          "slug": "nelfe"
        },
        {
          "symbol": "SKIC2",
          "ensemblId": "ENSG00000204351",
          "biotype": "protein_coding",
          "start": 31959025,
          "end": 31969852,
          "strand": "+",
          "slug": "skic2"
        },
        {
          "symbol": "DXO",
          "ensemblId": "ENSG00000204348",
          "biotype": "protein_coding",
          "start": 31969810,
          "end": 31972517,
          "strand": "-",
          "slug": "dxo"
        },
        {
          "symbol": "WHR1",
          "ensemblId": "ENSG00000204344",
          "biotype": "protein_coding",
          "start": 31971091,
          "end": 31982821,
          "strand": "+",
          "slug": "whr1"
        },
        {
          "symbol": "C4A",
          "ensemblId": "ENSG00000244731",
          "biotype": "protein_coding",
          "start": 31981991,
          "end": 32005247,
          "strand": "+",
          "slug": "c4a"
        },
        {
          "symbol": "C4B",
          "ensemblId": "ENSG00000224389",
          "biotype": "protein_coding",
          "start": 32014725,
          "end": 32035975,
          "strand": "+",
          "slug": "c4b"
        },
        {
          "symbol": "CYP21A2",
          "ensemblId": "ENSG00000231852",
          "biotype": "protein_coding",
          "start": 32038297,
          "end": 32042321,
          "strand": "+",
          "slug": "cyp21a2"
        },
        {
          "symbol": "TNXB",
          "ensemblId": "ENSG00000168477",
          "biotype": "protein_coding",
          "start": 32041153,
          "end": 32115334,
          "strand": "-",
          "slug": "tnxb"
        },
        {
          "symbol": "ATF6B",
          "ensemblId": "ENSG00000213676",
          "biotype": "protein_coding",
          "start": 32115264,
          "end": 32128255,
          "strand": "-",
          "slug": "atf6b"
        },
        {
          "symbol": "FKBPL",
          "ensemblId": "ENSG00000204315",
          "biotype": "protein_coding",
          "start": 32128697,
          "end": 32131070,
          "strand": "-",
          "slug": "fkbpl"
        },
        {
          "symbol": "PPT2",
          "ensemblId": "ENSG00000221988",
          "biotype": "protein_coding",
          "start": 32146580,
          "end": 32163679,
          "strand": "+",
          "slug": "ppt2"
        },
        {
          "symbol": "PRRT1",
          "ensemblId": "ENSG00000204314",
          "biotype": "protein_coding",
          "start": 32147292,
          "end": 32153083,
          "strand": "-",
          "slug": "prrt1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285085",
          "biotype": "protein_coding",
          "start": 32150495,
          "end": 32154373,
          "strand": "-"
        },
        {
          "symbol": "PPT2-EGFL8",
          "ensemblId": "ENSG00000258388",
          "biotype": "protein_coding",
          "start": 32153845,
          "end": 32171978,
          "strand": "+",
          "slug": "ppt2-egfl8"
        },
        {
          "symbol": "EGFL8",
          "ensemblId": "ENSG00000241404",
          "biotype": "protein_coding",
          "start": 32163918,
          "end": 32171980,
          "strand": "+",
          "slug": "egfl8"
        },
        {
          "symbol": "AGPAT1",
          "ensemblId": "ENSG00000204310",
          "biotype": "protein_coding",
          "start": 32167118,
          "end": 32178112,
          "strand": "-",
          "slug": "agpat1"
        },
        {
          "symbol": "RNF5",
          "ensemblId": "ENSG00000204308",
          "biotype": "protein_coding",
          "start": 32178391,
          "end": 32184769,
          "strand": "+",
          "slug": "rnf5"
        },
        {
          "symbol": "AGER",
          "ensemblId": "ENSG00000204305",
          "biotype": "protein_coding",
          "start": 32180963,
          "end": 32184365,
          "strand": "-",
          "slug": "ager"
        },
        {
          "symbol": "PBX2",
          "ensemblId": "ENSG00000204304",
          "biotype": "protein_coding",
          "start": 32184733,
          "end": 32190278,
          "strand": "-",
          "slug": "pbx2"
        },
        {
          "symbol": "GPSM3",
          "ensemblId": "ENSG00000213654",
          "biotype": "protein_coding",
          "start": 32190766,
          "end": 32195523,
          "strand": "-",
          "slug": "gpsm3"
        },
        {
          "symbol": "NOTCH4",
          "ensemblId": "ENSG00000204301",
          "biotype": "protein_coding",
          "start": 32194843,
          "end": 32224111,
          "strand": "-",
          "slug": "notch4"
        },
        {
          "symbol": "TSBP1",
          "ensemblId": "ENSG00000204296",
          "biotype": "protein_coding",
          "start": 32288526,
          "end": 32371907,
          "strand": "-",
          "slug": "tsbp1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "alpha-mannosidosis-and-glycoproteinoses",
        "name": "Alfa-manozidozė ir kiti glikoproteinozai",
        "diseases": [
          {
            "mondoId": "MONDO:0017734",
            "name": "Sialidozė (mukolipidozė I)",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Pasireiškia nuo vyšnios raudonumo dėmių su mioklonija paauglystėje (1 tipas) iki sunkios kūdikystės ligos su grubiais veido bruožais ir kaulų pokyčiais (2 tipas), sukeltos NEU1 variantų.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/alpha-mannosidosis-and-glycoproteinoses"
      },
      {
        "slug": "lysosomal-storage-disease",
        "name": "Lizosominė kaupimo liga",
        "diseases": [
          {
            "mondoId": "MONDO:0002561",
            "name": "Lizosomų kaupimosi liga (kiti ir nepatikslinti tipai)",
            "genes": 59,
            "inheritance": null,
            "description": "Apima lizosomų kaupimosi ligas, kurioms nėra atskiros ataskaitos, pavyzdžiui, Farbero ligą ir kitus su ASAH1 susijusius sutrikimus, prosapozino (PSAP) trūkumus, daugybinį sulfatazių trūkumą, mukopolisacharidozės IX ir X tipus bei Dorfmano-Chanarino ligą. Paveldėjimo tipas priklauso nuo poformio, dažniausiai autosominis recesyvinis.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/lysosomal-storage-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-ekg",
        "name": "Abnormal EKG",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-ekg"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "skeletal-dysplasia",
        "name": "Abnormal skeletal development",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skeletal-dysplasia"
      },
      {
        "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": "aminoaciduria",
        "name": "Abnormal urinary amino-acid findings",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aminoaciduria"
      },
      {
        "slug": "abnormal-vertebral-body-morphology",
        "name": "Abnormal vertebral body morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology"
      },
      {
        "slug": "abnormality-of-movement",
        "name": "Abnormality of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-movement"
      },
      {
        "slug": "abnormal-heart-morphology",
        "name": "Abnormality of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-heart-morphology"
      },
      {
        "slug": "abnormality-of-the-kidney",
        "name": "Abnormality of the kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-kidney"
      },
      {
        "slug": "abnormality-of-the-respiratory-system",
        "name": "Abnormality of the respiratory system",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-respiratory-system"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "bone-marrow-foam-cells",
        "name": "Bone-marrow foam cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/bone-marrow-foam-cells"
      },
      {
        "slug": "cherry-red-spot-of-the-macula",
        "name": "Cherry red spot of the macula",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cherry-red-spot-of-the-macula"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "developmental-cataract",
        "name": "Clouding of the lens of the eye at birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/developmental-cataract"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "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": "decreased-nerve-conduction-velocity",
        "name": "Decreased nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-nerve-conduction-velocity"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "dysostosis-multiplex",
        "name": "Dysostosis multiplex",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dysostosis-multiplex"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "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": "frequent",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "facial-edema",
        "name": "Facial puffiness",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/facial-edema"
      },
      {
        "slug": "underdeveloped-supraorbital-ridges",
        "name": "Flattened bony protrusion above eyes",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/underdeveloped-supraorbital-ridges"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "thick-lower-lip-vermilion",
        "name": "Full lower lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thick-lower-lip-vermilion"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-hypertrichosis",
        "name": "Generalized hypertrichosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-hypertrichosis"
      },
      {
        "slug": "generalized-myoclonic-seizure",
        "name": "Generalized myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-myoclonic-seizure"
      },
      {
        "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": "gingival-overgrowth",
        "name": "Gum enlargement",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gingival-overgrowth"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hernia",
        "name": "Hernia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hernia"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "hydrops-fetalis",
        "name": "Hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/hydrops-fetalis"
      },
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "hypoplasia-of-the-fovea",
        "name": "Hypoplasia of the fovea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-fovea"
      },
      {
        "slug": "dysphonia",
        "name": "Inability to produce voice sounds",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysphonia"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "increased-urinary-o-linked-sialopeptides",
        "name": "Increased urinary O-linked sialopeptides",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-urinary-o-linked-sialopeptides"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "lower-limb-spasticity",
        "name": "Lower limb spasticity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lower-limb-spasticity"
      },
      {
        "slug": "polydactyly",
        "name": "More than five fingers or toes on hands or feet",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/polydactyly"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "retinopathy",
        "name": "Noninflammatory retina disease",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/retinopathy"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "petechiae",
        "name": "Petechiae",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/petechiae"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "progressive-visual-loss",
        "name": "Progressive loss of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-visual-loss"
      },
      {
        "slug": "protruding-tongue",
        "name": "Protruding tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/protruding-tongue"
      },
      {
        "slug": "reduced-tissue-neuraminidase-activity",
        "name": "Reduced tissue neuraminidase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-tissue-neuraminidase-activity"
      },
      {
        "slug": "respiratory-tract-infection",
        "name": "Respiratory tract infection",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-tract-infection"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "short-thorax",
        "name": "Shorter than typical length between neck and abdomen",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-thorax"
      },
      {
        "slug": "slurred-speech",
        "name": "Slurred speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/slurred-speech"
      },
      {
        "slug": "epiphyseal-stippling",
        "name": "Speckled calcifications in end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/epiphyseal-stippling"
      },
      {
        "slug": "telangiectasia",
        "name": "Spider veins",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/telangiectasia"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "urinary-excretion-of-sialylated-oligosaccharides",
        "name": "Urinary excretion of sialylated oligosaccharides",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/urinary-excretion-of-sialylated-oligosaccharides"
      },
      {
        "slug": "vacuolated-lymphocytes",
        "name": "Vacuolated lymphocytes",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/vacuolated-lymphocytes"
      },
      {
        "slug": "vascular-skin-abnormality",
        "name": "Vascular skin abnormality",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/vascular-skin-abnormality"
      },
      {
        "slug": "visceromegaly",
        "name": "Visceromegaly",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visceromegaly"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-loss"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "yellow-white-retinal-lesion",
        "name": "Yellow/white retinal lesion",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/yellow-white-retinal-lesion"
      }
    ],
    "related": [
      {
        "slug": "abhd5",
        "symbol": "ABHD5",
        "name": "abhydrolase domain containing 5, lysophosphatidic acid acyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/abhd5"
      },
      {
        "slug": "aga",
        "symbol": "AGA",
        "name": "aspartylglucosaminidase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/aga"
      },
      {
        "slug": "ap5z1",
        "symbol": "AP5Z1",
        "name": "adaptor related protein complex 5 subunit zeta 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/ap5z1"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/arsa"
      },
      {
        "slug": "arsb",
        "symbol": "ARSB",
        "name": "arylsulfatase B",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/arsb"
      },
      {
        "slug": "arsk",
        "symbol": "ARSK",
        "name": "arylsulfatase family member K",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/arsk"
      },
      {
        "slug": "asah1",
        "symbol": "ASAH1",
        "name": "N-acylsphingosine amidohydrolase 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/asah1"
      },
      {
        "slug": "clcn6",
        "symbol": "CLCN6",
        "name": "Cl-/H+ antiporter 6",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/clcn6"
      },
      {
        "slug": "cln3",
        "symbol": "CLN3",
        "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cln3"
      },
      {
        "slug": "cln5",
        "symbol": "CLN5",
        "name": "CLN5 lysosomal BMP synthase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cln5"
      },
      {
        "slug": "cln6",
        "symbol": "CLN6",
        "name": "CLN6 transmembrane ER protein",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cln6"
      },
      {
        "slug": "cln8",
        "symbol": "CLN8",
        "name": "CLN8 transmembrane ER and ERGIC protein",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cln8"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}