{
  "url": "https://dantelabs.com/ro/genes/nhej1",
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    "symbol": "NHEJ1",
    "name": "non-homologous end joining factor 1",
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      "XLF",
      "FLJ12610"
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      "Q9H9Q4"
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          "symbol": "FEV",
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          "symbol": "CRYBA2",
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          "symbol": "CFAP65",
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          "symbol": "IHH",
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          "symbol": "ATG9A",
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        {
          "symbol": "ANKZF1",
          "ensemblId": "ENSG00000163516",
          "biotype": "protein_coding",
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          "slug": "ankzf1"
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        {
          "symbol": "GLB1L",
          "ensemblId": "ENSG00000163521",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "glb1l"
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        {
          "symbol": "STK16",
          "ensemblId": "ENSG00000115661",
          "biotype": "protein_coding",
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        {
          "symbol": "TUBA4A",
          "ensemblId": "ENSG00000127824",
          "biotype": "protein_coding",
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          "slug": "tuba4a"
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        {
          "symbol": "TUBA4B",
          "ensemblId": "ENSG00000243910",
          "biotype": "protein_coding",
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          "strand": "+",
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        {
          "symbol": "DNAJB2",
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          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "dnajb2"
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        {
          "symbol": "PTPRN",
          "ensemblId": "ENSG00000054356",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "ptprn"
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        {
          "symbol": "RESP18",
          "ensemblId": "ENSG00000182698",
          "biotype": "protein_coding",
          "start": 219327407,
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          "strand": "-",
          "slug": "resp18"
        },
        {
          "symbol": "DNPEP",
          "ensemblId": "ENSG00000123992",
          "biotype": "protein_coding",
          "start": 219360090,
          "end": 219400022,
          "strand": "-",
          "slug": "dnpep"
        },
        {
          "symbol": "DES",
          "ensemblId": "ENSG00000175084",
          "biotype": "protein_coding",
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          "end": 219426740,
          "strand": "+",
          "slug": "des"
        },
        {
          "symbol": "SPEG",
          "ensemblId": "ENSG00000072195",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "speg"
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        {
          "symbol": "",
          "ensemblId": "ENSG00000286143",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "SPEGNB",
          "ensemblId": "ENSG00000286095",
          "biotype": "protein_coding",
          "start": 219496129,
          "end": 219498287,
          "strand": "+",
          "slug": "spegnb"
        },
        {
          "symbol": "GMPPA",
          "ensemblId": "ENSG00000144591",
          "biotype": "protein_coding",
          "start": 219498618,
          "end": 219513898,
          "strand": "+",
          "slug": "gmppa"
        },
        {
          "symbol": "ASIC4",
          "ensemblId": "ENSG00000072182",
          "biotype": "protein_coding",
          "start": 219514170,
          "end": 219538772,
          "strand": "+",
          "slug": "asic4"
        },
        {
          "symbol": "CHPF",
          "ensemblId": "ENSG00000123989",
          "biotype": "protein_coding",
          "start": 219538949,
          "end": 219543818,
          "strand": "-",
          "slug": "chpf"
        },
        {
          "symbol": "TMEM198",
          "ensemblId": "ENSG00000188760",
          "biotype": "protein_coding",
          "start": 219543130,
          "end": 219550595,
          "strand": "+",
          "slug": "tmem198"
        },
        {
          "symbol": "OBSL1",
          "ensemblId": "ENSG00000124006",
          "biotype": "protein_coding",
          "start": 219550727,
          "end": 219572076,
          "strand": "-",
          "slug": "obsl1"
        },
        {
          "symbol": "INHA",
          "ensemblId": "ENSG00000123999",
          "biotype": "protein_coding",
          "start": 219569162,
          "end": 219575711,
          "strand": "+",
          "slug": "inha"
        },
        {
          "symbol": "STK11IP",
          "ensemblId": "ENSG00000144589",
          "biotype": "protein_coding",
          "start": 219595805,
          "end": 219616452,
          "strand": "+",
          "slug": "stk11ip"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "severe-combined-immunodeficiency",
        "name": "Imunodeficiență combinată severă",
        "diseases": [
          {
            "mondoId": "MONDO:0015974",
            "name": "Imunodeficiență combinată severă",
            "genes": 31,
            "inheritance": "autosomal-recessive",
            "description": "Imunodeficiența combinată severă (SCID) cuprinde un grup de tulburări rare de imunodeficiență primară monogenică, caracterizate prin lipsa limfocitelor T periferice funcționale, ceea ce determină infecții respiratorii severe cu debut precoce și eșec în creștere. Acestea sunt clasificate în funcție de fenotipul imunologic în SCID cu absența limfocitelor T, dar prezența limfocitelor B (SCID T-B+), sau SCID cu absența ambelor tipuri de limfocite (SCID T-B-). Ambele grupuri includ mai multe forme, cu sau fără celule natural killer (NK).",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/severe-combined-immunodeficiency"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Alte erori înnăscute ale imunității",
        "diseases": [
          {
            "mondoId": "MONDO:0021094",
            "name": "Boală de imunodeficiență",
            "genes": 170,
            "inheritance": null,
            "description": "Boală în care există o deficiență sau un defect al mecanismelor imunității, fie celulare, fie umorale.",
            "management": "Transplant de celule stem hematopoietice (HSCT) pentru SCID și imunodeficiențe primare (PID) severe; substituție cu imunoglobuline (IVIG/SCIG) pentru deficiențele de anticorpi; leniolisib (Joenja, FDA 2023) pentru APDS; terapie genică pentru SCID-ADA; abatacept pentru deficiența CTLA4/LRBA; antibiotice profilactice; G-CSF pentru CGD",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "anophthalmia",
        "name": "Absence of eyeballs",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anophthalmia"
      },
      {
        "slug": "alopecia-universalis",
        "name": "Alopecia universalis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/alopecia-universalis"
      },
      {
        "slug": "autoimmune-hemolytic-anemia",
        "name": "Autoimmune hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/autoimmune-hemolytic-anemia"
      },
      {
        "slug": "autoimmune-thrombocytopenia",
        "name": "Autoimmune thrombocytopenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/autoimmune-thrombocytopenia"
      },
      {
        "slug": "autoimmunity",
        "name": "Autoimmunity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autoimmunity"
      },
      {
        "slug": "convex-nasal-ridge",
        "name": "Beaked nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/convex-nasal-ridge"
      },
      {
        "slug": "bird-like-facies",
        "name": "Bird-like facial appearance",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bird-like-facies"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "bone-marrow-hypocellularity",
        "name": "Bone marrow failure",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bone-marrow-hypocellularity"
      },
      {
        "slug": "bulbous-nose",
        "name": "Bulbous nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bulbous-nose"
      },
      {
        "slug": "chorioretinal-atrophy",
        "name": "Chorioretinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chorioretinal-atrophy"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "microcornea",
        "name": "Cornea of eye less than 10mm in diameter",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcornea"
      },
      {
        "slug": "cough",
        "name": "Cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cough"
      },
      {
        "slug": "crackles",
        "name": "Crackles",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/crackles"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "clinodactyly",
        "name": "Curvature of digit",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/clinodactyly"
      },
      {
        "slug": "decreased-total-leukocyte-count",
        "name": "Decreased blood leukocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "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": "obligate",
        "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": "very-frequent",
        "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": "very-frequent",
        "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": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "decreased-naive-t-cell-proportion",
        "name": "Decreased naive T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-naive-t-cell-proportion"
      },
      {
        "slug": "decreased-total-cd4-t-cell-proportion",
        "name": "Decreased total CD4+ T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-cd4-t-cell-proportion"
      },
      {
        "slug": "decreased-total-cd8-t-cell-proportion",
        "name": "Decreased total CD8+ T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-cd8-t-cell-proportion"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "bilateral-ptosis",
        "name": "Drooping of both upper eyelids",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bilateral-ptosis"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "erythroid-hyperplasia",
        "name": "Erythroid hyperplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/erythroid-hyperplasia"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "otitis-media-with-effusion",
        "name": "Fluid behind eardrum",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/otitis-media-with-effusion"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "ground-glass-opacification",
        "name": "Ground-glass opacification",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ground-glass-opacification"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hemophagocytosis",
        "name": "Hemophagocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hemophagocytosis"
      },
      {
        "slug": "increased-total-eosinophil-count",
        "name": "High blood eosinophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-total-eosinophil-count"
      },
      {
        "slug": "impaired-phytohemagglutinin-induced-t-lymphocyte-transformation",
        "name": "Impaired phytohemagglutinin-induced T lymphocyte transformation",
        "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/impaired-phytohemagglutinin-induced-t-lymphocyte-transformation"
      },
      {
        "slug": "increased-circulating-igm-concentration",
        "name": "Increased circulating IgM 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/increased-circulating-igm-concentration"
      },
      {
        "slug": "increased-memory-t-cell-proportion",
        "name": "Increased memory T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-memory-t-cell-proportion"
      },
      {
        "slug": "increased-naive-cd4-t-cell-proportion",
        "name": "Increased naive CD4+ T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-naive-cd4-t-cell-proportion"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "intermittent-diarrhea",
        "name": "Intermittent diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intermittent-diarrhea"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "esotropia",
        "name": "Inward turning cross eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/esotropia"
      },
      {
        "slug": "decreased-total-b-cell-count",
        "name": "Low B cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-b-cell-count"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "hypokalemia",
        "name": "Low blood potassium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypokalemia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "decreased-total-t-cell-count",
        "name": "Low T cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-t-cell-count"
      },
      {
        "slug": "lung-abscess",
        "name": "Lung abscess",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lung-abscess"
      },
      {
        "slug": "megakaryocyte-dysplasia",
        "name": "Megakaryocyte dysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/megakaryocyte-dysplasia"
      },
      {
        "slug": "megakaryocytopenia",
        "name": "Megakaryocytopenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/megakaryocytopenia"
      },
      {
        "slug": "methicillin-resistant-staphylococcus-aureus-infection",
        "name": "Methicillin-resistant Staphylococcus aureus infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/methicillin-resistant-staphylococcus-aureus-infection"
      },
      {
        "slug": "myelodysplasia",
        "name": "Myelodysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myelodysplasia"
      },
      {
        "slug": "neonatal-respiratory-distress",
        "name": "Neonatal respiratory distress",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/neonatal-respiratory-distress"
      },
      {
        "slug": "coloboma",
        "name": "Notched pupil",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/coloboma"
      },
      {
        "slug": "optic-disc-coloboma",
        "name": "Optic disc coloboma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-disc-coloboma"
      },
      {
        "slug": "pleural-thickening",
        "name": "Pleural thickening",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pleural-thickening"
      },
      {
        "slug": "pneumonia",
        "name": "Pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pneumonia"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "recurrent-bacterial-infections",
        "name": "Recurrent bacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-infections"
      },
      {
        "slug": "recurrent-bronchitis",
        "name": "Recurrent bronchitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-bronchitis"
      },
      {
        "slug": "recurrent-pneumonia",
        "name": "Recurrent pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-pneumonia"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "recurrent-viral-infections",
        "name": "Recurrent viral infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-viral-infections"
      },
      {
        "slug": "reduced-total-natural-killer-cell-count",
        "name": "Reduced total natural killer cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-total-natural-killer-cell-count"
      },
      {
        "slug": "retinal-atrophy",
        "name": "Retinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retinal-atrophy"
      },
      {
        "slug": "retinal-detachment",
        "name": "Retinal detachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retinal-detachment"
      },
      {
        "slug": "retinal-perforation",
        "name": "Retinal tear",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retinal-perforation"
      },
      {
        "slug": "high-myopia",
        "name": "Severe near sightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-myopia"
      },
      {
        "slug": "short-telomere-length",
        "name": "Short telomere length",
        "systems": [
          "abnormal-cellular-phenotype"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-telomere-length"
      },
      {
        "slug": "sinusitis",
        "name": "Sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sinusitis"
      },
      {
        "slug": "sloping-forehead",
        "name": "Sloping forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sloping-forehead"
      },
      {
        "slug": "nuclear-cataract",
        "name": "Yellowish cloudy center of lens",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nuclear-cataract"
      }
    ],
    "related": [
      {
        "slug": "ada",
        "symbol": "ADA",
        "name": "adenosine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/ada"
      },
      {
        "slug": "ak2",
        "symbol": "AK2",
        "name": "adenylate kinase 2",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/ak2"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/bcl11b"
      },
      {
        "slug": "card11",
        "symbol": "CARD11",
        "name": "caspase recruitment domain family member 11",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/card11"
      },
      {
        "slug": "carmil2",
        "symbol": "CARMIL2",
        "name": "capping protein regulator and myosin 1 linker 2",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/carmil2"
      },
      {
        "slug": "cd247",
        "symbol": "CD247",
        "name": "CD247 molecule",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/cd247"
      },
      {
        "slug": "cd3d",
        "symbol": "CD3D",
        "name": "CD3 delta subunit of T-cell receptor complex",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/cd3d"
      },
      {
        "slug": "cd3e",
        "symbol": "CD3E",
        "name": "CD3 epsilon subunit of T-cell receptor complex",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/cd3e"
      },
      {
        "slug": "cd70",
        "symbol": "CD70",
        "name": "CD70 molecule",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/cd70"
      },
      {
        "slug": "ciita",
        "symbol": "CIITA",
        "name": "class II major histocompatibility complex transactivator",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/ciita"
      },
      {
        "slug": "coro1a",
        "symbol": "CORO1A",
        "name": "coronin 1A",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/coro1a"
      },
      {
        "slug": "dclre1c",
        "symbol": "DCLRE1C",
        "name": "DNA cross-link repair 1C",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/dclre1c"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}