{
  "url": "https://dantelabs.com/fr/genes/ikbkg",
  "gene": {
    "slug": "ikbkg",
    "symbol": "IKBKG",
    "name": "inhibitor of nuclear factor kappa B kinase regulatory subunit gamma",
    "hgnc": "HGNC:5961",
    "summary": null,
    "location": "Xq28",
    "locusType": "gene with protein product",
    "aliases": [
      "IKK-gamma",
      "NEMO",
      "Fip3p",
      "FIP-3",
      "FIP3",
      "IKKAP1",
      "IKKG"
    ],
    "previousSymbols": [
      "IP2",
      "IP1"
    ],
    "ensemblId": "ENSG00000269335",
    "entrezId": 8517,
    "omim": [
      "300248"
    ],
    "uniprot": [
      "Q9Y6K9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 154547620,
      "end": 154565033,
      "strand": "+",
      "ensemblTranscript": "ENST00000594239.6",
      "refseqTranscript": "NM_001099857.5",
      "ensemblProtein": "ENSP00000471166.1",
      "refseqProtein": "NP_001093327.1",
      "exons": [
        {
          "start": 154547620,
          "end": 154547745
        },
        {
          "start": 154551988,
          "end": 154552189
        },
        {
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        }
      ],
      "cds": {
        "start": 154552003,
        "end": 154564461
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 153769414,
      "end": 153796782,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
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      "genes": [
        {
          "symbol": "MECP2",
          "ensemblId": "ENSG00000169057",
          "biotype": "protein_coding",
          "start": 154021573,
          "end": 154137103,
          "strand": "-",
          "slug": "mecp2"
        },
        {
          "symbol": "OPN1LW",
          "ensemblId": "ENSG00000102076",
          "biotype": "protein_coding",
          "start": 154144243,
          "end": 154159032,
          "strand": "+",
          "slug": "opn1lw"
        },
        {
          "symbol": "OPN1MW",
          "ensemblId": "ENSG00000268221",
          "biotype": "protein_coding",
          "start": 154182596,
          "end": 154196861,
          "strand": "+",
          "slug": "opn1mw"
        },
        {
          "symbol": "OPN1MW2",
          "ensemblId": "ENSG00000166160",
          "biotype": "protein_coding",
          "start": 154219756,
          "end": 154233286,
          "strand": "+",
          "slug": "opn1mw2"
        },
        {
          "symbol": "OPN1MW3",
          "ensemblId": "ENSG00000269433",
          "biotype": "protein_coding",
          "start": 154257582,
          "end": 154271090,
          "strand": "+",
          "slug": "opn1mw3"
        },
        {
          "symbol": "TEX28",
          "ensemblId": "ENSG00000278057",
          "biotype": "protein_coding",
          "start": 154271265,
          "end": 154295853,
          "strand": "-",
          "slug": "tex28"
        },
        {
          "symbol": "TKTL1",
          "ensemblId": "ENSG00000007350",
          "biotype": "protein_coding",
          "start": 154295795,
          "end": 154330350,
          "strand": "+",
          "slug": "tktl1"
        },
        {
          "symbol": "FLNA",
          "ensemblId": "ENSG00000196924",
          "biotype": "protein_coding",
          "start": 154348524,
          "end": 154374643,
          "strand": "-",
          "slug": "flna"
        },
        {
          "symbol": "EMD",
          "ensemblId": "ENSG00000102119",
          "biotype": "protein_coding",
          "start": 154379205,
          "end": 154381574,
          "strand": "+",
          "slug": "emd"
        },
        {
          "symbol": "RPL10",
          "ensemblId": "ENSG00000147403",
          "biotype": "protein_coding",
          "start": 154389955,
          "end": 154409168,
          "strand": "+",
          "slug": "rpl10"
        },
        {
          "symbol": "DNASE1L1",
          "ensemblId": "ENSG00000013563",
          "biotype": "protein_coding",
          "start": 154401236,
          "end": 154412119,
          "strand": "-",
          "slug": "dnase1l1"
        },
        {
          "symbol": "TAFAZZIN",
          "ensemblId": "ENSG00000102125",
          "biotype": "protein_coding",
          "start": 154409456,
          "end": 154421726,
          "strand": "+",
          "slug": "tafazzin"
        },
        {
          "symbol": "ATP6AP1",
          "ensemblId": "ENSG00000071553",
          "biotype": "protein_coding",
          "start": 154428618,
          "end": 154436517,
          "strand": "+",
          "slug": "atp6ap1"
        },
        {
          "symbol": "GDI1",
          "ensemblId": "ENSG00000203879",
          "biotype": "protein_coding",
          "start": 154436600,
          "end": 154443467,
          "strand": "+",
          "slug": "gdi1"
        },
        {
          "symbol": "FAM50A",
          "ensemblId": "ENSG00000071859",
          "biotype": "protein_coding",
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          "slug": "fam50a"
        },
        {
          "symbol": "PLXNA3",
          "ensemblId": "ENSG00000130827",
          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "LAGE3",
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          "biotype": "protein_coding",
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          "slug": "lage3"
        },
        {
          "symbol": "UBL4A",
          "ensemblId": "ENSG00000102178",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "ubl4a"
        },
        {
          "symbol": "SLC10A3",
          "ensemblId": "ENSG00000126903",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "slc10a3"
        },
        {
          "symbol": "FAM3A",
          "ensemblId": "ENSG00000071889",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "fam3a"
        },
        {
          "symbol": "G6PD",
          "ensemblId": "ENSG00000160211",
          "biotype": "protein_coding",
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          "end": 154547584,
          "strand": "-",
          "slug": "g6pd"
        },
        {
          "symbol": "CTAG1A",
          "ensemblId": "ENSG00000268651",
          "biotype": "protein_coding",
          "start": 154585133,
          "end": 154586816,
          "strand": "+",
          "slug": "ctag1a"
        },
        {
          "symbol": "CTAG1B",
          "ensemblId": "ENSG00000184033",
          "biotype": "protein_coding",
          "start": 154617609,
          "end": 154619282,
          "strand": "-",
          "slug": "ctag1b"
        },
        {
          "symbol": "CTAG2",
          "ensemblId": "ENSG00000126890",
          "biotype": "protein_coding",
          "start": 154651972,
          "end": 154653579,
          "strand": "-",
          "slug": "ctag2"
        },
        {
          "symbol": "GAB3",
          "ensemblId": "ENSG00000160219",
          "biotype": "protein_coding",
          "start": 154675249,
          "end": 154751583,
          "strand": "-",
          "slug": "gab3"
        },
        {
          "symbol": "DKC1",
          "ensemblId": "ENSG00000130826",
          "biotype": "protein_coding",
          "start": 154762741,
          "end": 154777697,
          "strand": "+",
          "slug": "dkc1"
        },
        {
          "symbol": "MPP1",
          "ensemblId": "ENSG00000130830",
          "biotype": "protein_coding",
          "start": 154778684,
          "end": 154821039,
          "strand": "-",
          "slug": "mpp1"
        },
        {
          "symbol": "SMIM9",
          "ensemblId": "ENSG00000203870",
          "biotype": "protein_coding",
          "start": 154823348,
          "end": 154834662,
          "strand": "-",
          "slug": "smim9"
        },
        {
          "symbol": "F8",
          "ensemblId": "ENSG00000185010",
          "biotype": "protein_coding",
          "start": 154835788,
          "end": 155026940,
          "strand": "-",
          "slug": "f8"
        },
        {
          "symbol": "H2AB1",
          "ensemblId": "ENSG00000274183",
          "biotype": "protein_coding",
          "start": 154884972,
          "end": 154885558,
          "strand": "+",
          "slug": "h2ab1"
        },
        {
          "symbol": "F8A1",
          "ensemblId": "ENSG00000288722",
          "biotype": "protein_coding",
          "start": 154886355,
          "end": 154888061,
          "strand": "+",
          "slug": "f8a1"
        },
        {
          "symbol": "FUNDC2",
          "ensemblId": "ENSG00000165775",
          "biotype": "protein_coding",
          "start": 155025980,
          "end": 155065641,
          "strand": "+",
          "slug": "fundc2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "autoinflammatory-disease-x-linked",
        "name": "Maladie autoinflammatoire liée à l'X",
        "diseases": [
          {
            "mondoId": "MONDO:0800129",
            "name": "Maladie autoinflammatoire liée à l'X",
            "genes": 1,
            "inheritance": null,
            "description": "Syndrome autoinflammatoire caractérisé par l'apparition d'une autoinflammation systémique dès les premiers mois de vie. Les signes cliniques comprennent une adénomégalie, une hépatosplénomégalie, de la fièvre, une panniculite ainsi qu'une éruption cutanée nodulaire. D'autres manifestations peuvent survenir, telles qu'une inflammation du nerf optique, une hémorragie intracrânienne et une lipodystrophie.",
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/autoinflammatory-disease-x-linked"
      },
      {
        "slug": "ectodermal-dysplasias",
        "name": "Dysplasies ectodermiques",
        "diseases": [
          {
            "mondoId": "MONDO:0016535",
            "name": "Dysplasie ectodermique anhidrotique",
            "genes": 5,
            "inheritance": null,
            "description": "Une maladie génétique du développement de l'ectoderme caractérisée par une malformation des structures ectodermiques telles que la peau, les cheveux, les dents et les glandes sudoripares. Elle comprend trois sous-types cliniquement presque indiscernables dont le symptôme principal est une anomalie de la sudation : le syndrome de Christ-Siemens-Touraine (CST, lié à l'X), la forme autosomique récessive (AR) et la forme autosomique dominante (AD), ainsi qu'un quatrième sous-type rare ayant pour symptôme principal un déficit immunitaire (HED avec déficit immunitaire).",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/ectodermal-dysplasias"
      },
      {
        "slug": "vitreoretinopathy",
        "name": "Vitréorétinopathie",
        "diseases": [
          {
            "mondoId": "MONDO:0010631",
            "name": "Incontinentia pigmenti",
            "genes": 1,
            "inheritance": "x-linked-dominant",
            "description": "L'incontinentia pigmenti (IP) est une dysplasie ectodermique multisystémique rare, liée à l'X à transmission dominante, généralement létale chez les sujets masculins. Chez les filles, elle se manifeste à la naissance par une éruption bulleuse le long des lignes de Blaschko (BL), suivie de plaques verruqueuses évoluant avec le temps en motifs tourbillonnants hyperpigmentés. Elle se caractérise également par des anomalies dentaires, une alopécie et une dystrophie unguéale, et touche parfois la rétine ainsi que le système nerveux central (SNC).",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/vitreoretinopathy"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Autres erreurs innées de l'immunité",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Erreur innée de l'immunité",
            "genes": 114,
            "inheritance": null,
            "description": "Maladies héréditaires du système immunitaire causées par des modifications de gènes uniques, qui affectent la manière dont l'organisme combat les infections ou régule l'inflammation.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": true
          },
          {
            "mondoId": "MONDO:0021094",
            "name": "Déficit immunitaire",
            "genes": 170,
            "inheritance": null,
            "description": "Maladie caractérisée par une déficience ou une anomalie des mécanismes de l'immunité, qu'elle soit cellulaire ou humorale.",
            "management": "HSCT pour le SCID et les DIP sévères ; traitement substitutif par immunoglobulines (IVIG/SCIG) pour les déficits en anticorps ; leniolisib (Joenja, FDA 2023) pour l'APDS ; thérapie génique pour l'ADA-SCID ; abatacept pour le déficit en CTLA4/LRBA ; antibioprophylaxie ; G-CSF pour la CGD",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-blistering-of-the-skin",
        "name": "Abnormal blistering of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin"
      },
      {
        "slug": "abnormal-breast-morphology",
        "name": "Abnormal breast morphology",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-breast-morphology"
      },
      {
        "slug": "abnormal-circulating-igg-concentration",
        "name": "Abnormal circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-circulating-igg-concentration"
      },
      {
        "slug": "abnormal-circulating-immunoglobulin-concentration",
        "name": "Abnormal circulating immunoglobulin 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/abnormal-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "abnormal-natural-killer-cell-physiology",
        "name": "Abnormal natural killer cell physiology",
        "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/abnormal-natural-killer-cell-physiology"
      },
      {
        "slug": "abnormal-skin-pigmentation",
        "name": "Abnormal skin pigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-skin-pigmentation"
      },
      {
        "slug": "abnormal-dental-morphology",
        "name": "Abnormality of dental shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-dental-morphology"
      },
      {
        "slug": "abnormal-nipple-morphology",
        "name": "Abnormality of the nipple",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-nipple-morphology"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "alopecia-of-scalp",
        "name": "Absence of scalp hair",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/alopecia-of-scalp"
      },
      {
        "slug": "breast-aplasia",
        "name": "Absent breast",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "url": "https://dantelabs.com/traits/breast-aplasia"
      },
      {
        "slug": "absent-circulating-isohemagglutinin",
        "name": "Absent circulating isohemagglutinin",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-circulating-isohemagglutinin"
      },
      {
        "slug": "absent-peripheral-lymph-nodes-in-presence-of-infection",
        "name": "Absent peripheral lymph nodes in presence of infection",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-peripheral-lymph-nodes-in-presence-of-infection"
      },
      {
        "slug": "supernumerary-nipple",
        "name": "Accessory nipple",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/supernumerary-nipple"
      },
      {
        "slug": "woolly-hair",
        "name": "Afro-textured hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/woolly-hair"
      },
      {
        "slug": "anterior-uveitis",
        "name": "Anterior uveitis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anterior-uveitis"
      },
      {
        "slug": "aplasia-of-the-eccrine-sweat-glands",
        "name": "Aplasia of the eccrine sweat glands",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aplasia-of-the-eccrine-sweat-glands"
      },
      {
        "slug": "atrophic-patchy-alopecia",
        "name": "Atrophic, patchy alopecia",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/atrophic-patchy-alopecia"
      },
      {
        "slug": "nail-dysplasia",
        "name": "Atypical nail growth",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/nail-dysplasia"
      },
      {
        "slug": "autoimmunity",
        "name": "Autoimmunity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autoimmunity"
      },
      {
        "slug": "bacteremia",
        "name": "Bacteremia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bacteremia"
      },
      {
        "slug": "bacterial-cellulitis",
        "name": "Bacterial cellulitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bacterial-cellulitis"
      },
      {
        "slug": "cellulitis",
        "name": "Bacterial infection of skin",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cellulitis"
      },
      {
        "slug": "bacterial-meningitis",
        "name": "Bacterial meningitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bacterial-meningitis"
      },
      {
        "slug": "cerebral-hemorrhage",
        "name": "Bleeding in brain",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-hemorrhage"
      },
      {
        "slug": "osteomyelitis",
        "name": "Bone infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteomyelitis"
      },
      {
        "slug": "chorioretinitis",
        "name": "Chorioretinitis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chorioretinitis"
      },
      {
        "slug": "chronic-diarrhea",
        "name": "Chronic diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-diarrhea"
      },
      {
        "slug": "orofacial-cleft",
        "name": "Cleft of the mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/orofacial-cleft"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "coarse-hair",
        "name": "Coarse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/coarse-hair"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "complete-or-near-complete-absence-of-specific-antibody-response-to-unconjugated-pneumococcus-polysaccharide",
        "name": "Complete or near-complete absence of specific antibody response to unconjugated pneumococcus polysaccharide",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/complete-or-near-complete-absence-of-specific-antibody-response-to-unconjugated-pneumococcus-polysaccharide"
      },
      {
        "slug": "conical-primary-incisor",
        "name": "Cone shaped front baby tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/conical-primary-incisor"
      },
      {
        "slug": "conical-incisor",
        "name": "Cone shaped front tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/conical-incisor"
      },
      {
        "slug": "conical-tooth",
        "name": "Cone shaped tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/conical-tooth"
      },
      {
        "slug": "keratitis",
        "name": "Corneal inflammation",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/keratitis"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "hypohidrosis",
        "name": "Decreased ability to sweat",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypohidrosis"
      },
      {
        "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": "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": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration"
      },
      {
        "slug": "decreased-circulating-igg2-concentration",
        "name": "Decreased circulating IgG2 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-igg2-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": "microdontia",
        "name": "Decreased size of tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microdontia"
      },
      {
        "slug": "delayed-eruption-of-primary-teeth",
        "name": "Delayed eruption of baby teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-primary-teeth"
      },
      {
        "slug": "delayed-eruption-of-permanent-teeth",
        "name": "Delayed eruption of permanent teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-permanent-teeth"
      },
      {
        "slug": "delayed-eruption-of-teeth",
        "name": "Delayed eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth"
      },
      {
        "slug": "disseminated-non-tuberculous-mycobacterial-infection",
        "name": "Disseminated non-tuberculous mycobacterial infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/disseminated-non-tuberculous-mycobacterial-infection"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "ectodermal-dysplasia",
        "name": "Ectodermal dysplasia",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ectodermal-dysplasia"
      },
      {
        "slug": "eczematoid-dermatitis",
        "name": "Eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eczematoid-dermatitis"
      },
      {
        "slug": "increased-total-leukocyte-count",
        "name": "Elevated white blood count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-total-leukocyte-count"
      },
      {
        "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": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "supernumerary-ribs",
        "name": "Extra ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/supernumerary-ribs"
      },
      {
        "slug": "hypodontia",
        "name": "Failure of development of between one and six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypodontia"
      },
      {
        "slug": "oligodontia",
        "name": "Failure of development of more than six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oligodontia"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "fine-hair",
        "name": "Fine hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/fine-hair"
      },
      {
        "slug": "pedal-edema",
        "name": "Fluid accumulation in lower limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pedal-edema"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "genital-edema",
        "name": "Genital edema",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/genital-edema"
      },
      {
        "slug": "granulomatosis",
        "name": "Granulomatosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/granulomatosis"
      },
      {
        "slug": "ridged-nail",
        "name": "Grooved nails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ridged-nail"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "osteopetrosis",
        "name": "Harder, denser, fracture-prone bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteopetrosis"
      },
      {
        "slug": "increased-total-eosinophil-count",
        "name": "High blood eosinophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-total-eosinophil-count"
      },
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "hypopituitarism",
        "name": "Hypopituitarism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypopituitarism"
      },
      {
        "slug": "hypoplasia-of-the-fovea",
        "name": "Hypoplasia of the fovea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-fovea"
      },
      {
        "slug": "impacted-tooth",
        "name": "Impacted tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impacted-tooth"
      },
      {
        "slug": "increased-circulating-iga-concentration",
        "name": "Increased 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/increased-circulating-iga-concentration"
      },
      {
        "slug": "increased-circulating-ige-concentration",
        "name": "Increased circulating IgE 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/increased-circulating-ige-concentration"
      },
      {
        "slug": "increased-circulating-igg-concentration",
        "name": "Increased 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/increased-circulating-igg-concentration"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-igm-concentration"
      },
      {
        "slug": "increased-total-b-cell-count",
        "name": "Increased total B cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-total-b-cell-count"
      },
      {
        "slug": "increased-total-t-cell-count",
        "name": "Increased total T cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-total-t-cell-count"
      },
      {
        "slug": "panniculitis",
        "name": "Inflammation of fat tissue",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/panniculitis"
      },
      {
        "slug": "inflammation-of-the-large-intestine",
        "name": "Inflammation of the large intestine",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inflammation-of-the-large-intestine"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "invasive-fungal-infection",
        "name": "Invasive fungal infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/invasive-fungal-infection"
      },
      {
        "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": "kyphoscoliosis",
        "name": "Kyphoscoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/kyphoscoliosis"
      },
      {
        "slug": "anhidrosis",
        "name": "Lack of sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anhidrosis"
      },
      {
        "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": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "maculopapular-exanthema",
        "name": "Maculopapular exanthema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/maculopapular-exanthema"
      },
      {
        "slug": "hemivertebrae",
        "name": "Missing part of vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hemivertebrae"
      },
      {
        "slug": "nail-pits",
        "name": "Nail pits",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/nail-pits"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-neuritis",
        "name": "Optic neuritis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-neuritis"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "panuveitis",
        "name": "Panuveitis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/panuveitis"
      },
      {
        "slug": "hemiplegia-hemiparesis",
        "name": "Paralysis or weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis"
      },
      {
        "slug": "hypopigmentation-of-the-skin",
        "name": "Patchy lightened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypopigmentation-of-the-skin"
      },
      {
        "slug": "peg-shaped-maxillary-lateral-incisors",
        "name": "Peg-shaped maxillary lateral incisors",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/peg-shaped-maxillary-lateral-incisors"
      },
      {
        "slug": "periventricular-leukomalacia",
        "name": "Periventricular leukomalacia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/periventricular-leukomalacia"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "pneumocystis-jirovecii-pneumonia",
        "name": "Pneumocystis jirovecii pneumonia",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pneumocystis-jirovecii-pneumonia"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "pustular-rash",
        "name": "Pustular rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pustular-rash"
      },
      {
        "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-bacterial-meningitis",
        "name": "Recurrent bacterial meningitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-meningitis"
      },
      {
        "slug": "recurrent-lower-respiratory-tract-infections",
        "name": "Recurrent chest infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-lower-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-cutaneous-abscess-formation",
        "name": "Recurrent cutaneous abscess formation",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-cutaneous-abscess-formation"
      },
      {
        "slug": "recurrent-giardia-lamblia-infection",
        "name": "Recurrent Giardia lamblia infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-giardia-lamblia-infection"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "slug": "recurrent-mucocutaneous-candidiasis",
        "name": "Recurrent mucocutaneous candidiasis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-mucocutaneous-candidiasis"
      },
      {
        "slug": "recurrent-mycobacterial-infections",
        "name": "Recurrent mycobacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-mycobacterial-infections"
      },
      {
        "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-sepsis",
        "name": "Recurrent sepsis",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-sepsis"
      },
      {
        "slug": "recurrent-sinusitis",
        "name": "Recurrent sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-sinusitis"
      },
      {
        "slug": "erythema",
        "name": "Redness of skin or mucous membrane",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/erythema"
      },
      {
        "slug": "retinal-hemorrhage",
        "name": "Retinal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-hemorrhage"
      },
      {
        "slug": "retinal-detachment",
        "name": "Retinal detachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-detachment"
      },
      {
        "slug": "retinal-neovascularization",
        "name": "Retinal neovascularization",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-neovascularization"
      },
      {
        "slug": "scarring",
        "name": "Scarring",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/scarring"
      },
      {
        "slug": "severe-cytomegalovirus-infection",
        "name": "Severe cytomegalovirus infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/severe-cytomegalovirus-infection"
      },
      {
        "slug": "severe-pseudomonas-aeruginosa-infection",
        "name": "Severe Pseudomonas aeruginosa infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-pseudomonas-aeruginosa-infection"
      },
      {
        "slug": "severe-viral-infection",
        "name": "Severe viral infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/severe-viral-infection"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "hypoplastic-nipples",
        "name": "Small nipples",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "url": "https://dantelabs.com/traits/hypoplastic-nipples"
      },
      {
        "slug": "sparse-eyebrow",
        "name": "Sparse eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-eyebrow"
      },
      {
        "slug": "sparse-eyelashes",
        "name": "Sparse eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sparse-eyelashes"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "sparse-scalp-hair",
        "name": "Sparse scalp hair",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-scalp-hair"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "lymphedema",
        "name": "Swelling caused by excess lymph fluid under skin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lymphedema"
      },
      {
        "slug": "onychogryphosis",
        "name": "Thick nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/onychogryphosis"
      },
      {
        "slug": "breast-hypoplasia",
        "name": "Underdeveloped breasts",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "url": "https://dantelabs.com/traits/breast-hypoplasia"
      },
      {
        "slug": "unusual-infectious-osteomyelitis",
        "name": "Unusual infectious osteomyelitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/unusual-infectious-osteomyelitis"
      },
      {
        "slug": "unusual-molluscum-contagiosum",
        "name": "Unusual molluscum contagiosum",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unusual-molluscum-contagiosum"
      },
      {
        "slug": "unusual-mycobacterial-infection",
        "name": "Unusual mycobacterial infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/unusual-mycobacterial-infection"
      },
      {
        "slug": "uveitis",
        "name": "Uveitis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/uveitis"
      },
      {
        "slug": "verrucous-papule",
        "name": "Verrucous papule",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/verrucous-papule"
      },
      {
        "slug": "vesicular-eruption",
        "name": "Vesicular eruption",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/vesicular-eruption"
      },
      {
        "slug": "viral-meningitis",
        "name": "Viral meningitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/viral-meningitis"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "periorbital-wrinkles",
        "name": "Wrinkles around the eyes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/periorbital-wrinkles"
      }
    ],
    "related": [
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/aicda"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/blnk"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/btk"
      },
      {
        "slug": "c1qa",
        "symbol": "C1QA",
        "name": "complement C1q A chain",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/c1qa"
      },
      {
        "slug": "c1qb",
        "symbol": "C1QB",
        "name": "complement C1q B chain",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/c1qb"
      },
      {
        "slug": "c1qc",
        "symbol": "C1QC",
        "name": "complement C1q C chain",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/c1qc"
      },
      {
        "slug": "c1s",
        "symbol": "C1S",
        "name": "complement C1s",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/c1s"
      },
      {
        "slug": "c2",
        "symbol": "C2",
        "name": "complement C2",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/c2"
      },
      {
        "slug": "c3",
        "symbol": "C3",
        "name": "complement C3",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/c3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}