{
  "url": "https://dantelabs.com/pt/genes/cdh23",
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        {
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          "strand": "+",
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      {
        "slug": "usher-syndrome",
        "name": "Síndrome de Usher",
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            "mondoId": "MONDO:0019501",
            "name": "Síndrome de Usher",
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            "inheritance": "autosomal-recessive",
            "description": "Um grupo de doenças recessivas (tipos 1 a 4) que causam perda auditiva neurossensorial, retinite pigmentosa progressiva e, em alguns tipos, problemas de equilíbrio, associadas a genes como USH2A, MYO7A, CDH23, PCDH15, USH1C, USH1G, ADGRV1, WHRN, CLRN1 e ARSG.",
            "management": "Um diagnóstico precoce ajuda a tomar decisões sobre o momento da colocação de implantes cocleares, a monitorização dos olhos e a elegibilidade para ensaios de terapia retiniana, e é relevante para o rastreio de portadores.",
            "evidence": {
              "gencc": [
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                "Labcorp Genetics (formerly Invitae)",
                "Natera"
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              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
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            },
            "sameAsReport": true,
            "broad": false
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        ],
        "url": "https://dantelabs.com/pt/conditions/usher-syndrome"
      },
      {
        "slug": "hearing-loss-and-deafness",
        "name": "Perda Auditiva e Surdez",
        "diseases": [
          {
            "mondoId": "MONDO:0019497",
            "name": "Perda Auditiva Genética Não Sindrómica",
            "genes": 97,
            "inheritance": null,
            "description": "Perda auditiva hereditária sem outras manifestações clínicas, incluindo as formas recessivas mais comuns causadas por GJB2, OTOF, SLC26A4, STRC e muitos outros genes, bem como as formas dominantes, ligadas ao cromossoma X e mitocondriais.",
            "management": "Conhecer a causa genética pode orientar o apoio auditivo e as decisões sobre implante coclear, a elegibilidade para ensaios de terapia genética (por exemplo, OTOF) e o aconselhamento familiar.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/hearing-loss-and-deafness"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-obesity",
        "name": "Abdominal obesity",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abdominal-obesity"
      },
      {
        "slug": "abducens-palsy",
        "name": "Abducens palsy",
        "systems": [
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        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abducens-palsy"
      },
      {
        "slug": "amenorrhea",
        "name": "Abnormal absence of menstruation",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/amenorrhea"
      },
      {
        "slug": "abnormal-cochlea-morphology",
        "name": "Abnormal cochlea morphology",
        "systems": [
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        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cochlea-morphology"
      },
      {
        "slug": "abnormal-electroretinogram",
        "name": "Abnormal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-electroretinogram"
      },
      {
        "slug": "erectile-dysfunction",
        "name": "Abnormal erection",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/erectile-dysfunction"
      },
      {
        "slug": "abnormal-hair-quantity",
        "name": "Abnormal hair quantity",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-hair-quantity"
      },
      {
        "slug": "abnormal-libido",
        "name": "Abnormal libido",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-libido"
      },
      {
        "slug": "abnormal-pituitary-gland-morphology",
        "name": "Abnormal pituitary gland morphology",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-pituitary-gland-morphology"
      },
      {
        "slug": "abnormal-vestibular-function",
        "name": "Abnormal vestibular function",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-vestibular-function"
      },
      {
        "slug": "abnormal-visual-field-test",
        "name": "Abnormal visual field test",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-visual-field-test"
      },
      {
        "slug": "gait-imbalance",
        "name": "Abnormality of balance",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-imbalance"
      },
      {
        "slug": "abnormality-of-the-cardiovascular-system",
        "name": "Abnormality of the cardiovascular system",
        "systems": [],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-cardiovascular-system"
      },
      {
        "slug": "abnormality-of-the-menstrual-cycle",
        "name": "Abnormality of the menstrual cycle",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-menstrual-cycle"
      },
      {
        "slug": "abnormality-of-the-respiratory-system",
        "name": "Abnormality of the respiratory system",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-respiratory-system"
      },
      {
        "slug": "acne",
        "name": "Acne",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/acne"
      },
      {
        "slug": "adrenocorticotropic-hormone-deficiency",
        "name": "Adrenocorticotropic hormone deficiency",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/adrenocorticotropic-hormone-deficiency"
      },
      {
        "slug": "adrenocorticotropin-deficient-adrenal-insufficiency",
        "name": "Adrenocorticotropin deficient adrenal insufficiency",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/adrenocorticotropin-deficient-adrenal-insufficiency"
      },
      {
        "slug": "anterior-hypopituitarism",
        "name": "Anterior hypopituitarism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anterior-hypopituitarism"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "large-sella-turcica",
        "name": "Big sella turcica",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/large-sella-turcica"
      },
      {
        "slug": "bitemporal-hemianopia",
        "name": "Bitemporal hemianopia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bitemporal-hemianopia"
      },
      {
        "slug": "scotoma",
        "name": "Blind spot",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/scotoma"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "purpura",
        "name": "Blood spots",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/purpura"
      },
      {
        "slug": "bruising-susceptibility",
        "name": "Bruising susceptibility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "slug": "dorsocervical-fat-pad",
        "name": "Buffalo hump",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dorsocervical-fat-pad"
      },
      {
        "slug": "emotional-lability",
        "name": "Can't control feelings",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/emotional-lability"
      },
      {
        "slug": "capillary-fragility",
        "name": "Capillary fragility",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/capillary-fragility"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "central-adrenal-insufficiency",
        "name": "Central adrenal insufficiency",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/central-adrenal-insufficiency"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "vertebral-compression-fracture",
        "name": "Compression fracture of a vertebral body",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vertebral-compression-fracture"
      },
      {
        "slug": "cranial-nerve-paralysis",
        "name": "Cranial nerve paralysis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cranial-nerve-paralysis"
      },
      {
        "slug": "intra-oral-hyperpigmentation",
        "name": "Dark color of gums",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intra-oral-hyperpigmentation"
      },
      {
        "slug": "avascular-necrosis",
        "name": "Death of bone due to decreased blood supply",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/avascular-necrosis"
      },
      {
        "slug": "hypogonadism",
        "name": "Decreased activity of gonads",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypogonadism"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "slug": "decreased-circulating-acth-concentration",
        "name": "Decreased circulating ACTH concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-acth-concentration"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "decreased-female-libido",
        "name": "Decreased female sex drive",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-female-libido"
      },
      {
        "slug": "decreased-fertility-in-females",
        "name": "Decreased fertility in females",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-fertility-in-females"
      },
      {
        "slug": "decreased-fertility-in-males",
        "name": "Decreased fertility in males",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-fertility-in-males"
      },
      {
        "slug": "male-hypogonadism",
        "name": "Decreased function of male gonad",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/male-hypogonadism"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "decreased-total-eosinophil-count",
        "name": "Decreased total eosinophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-eosinophil-count"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "impotence",
        "name": "Difficulty getting a full erection",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/impotence"
      },
      {
        "slug": "vertigo",
        "name": "Dizziness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vertigo"
      },
      {
        "slug": "diplopia",
        "name": "Double vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diplopia"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "dyspareunia",
        "name": "Dyspareunia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyspareunia"
      },
      {
        "slug": "ecchymosis",
        "name": "Ecchymosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ecchymosis"
      },
      {
        "slug": "elevated-circulating-thyroid-stimulating-hormone-concentration",
        "name": "Elevated circulating thyroid-stimulating hormone concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-thyroid-stimulating-hormone-concentration"
      },
      {
        "slug": "increased-total-leukocyte-count",
        "name": "Elevated white blood count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-total-leukocyte-count"
      },
      {
        "slug": "adrenal-hyperplasia",
        "name": "Enlarged adrenal glands",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/adrenal-hyperplasia"
      },
      {
        "slug": "gynecomastia",
        "name": "Enlarged male breast",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gynecomastia"
      },
      {
        "slug": "enlarged-pituitary-gland",
        "name": "Enlarged pituitary gland",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/enlarged-pituitary-gland"
      },
      {
        "slug": "goiter",
        "name": "Enlarged thyroid gland in neck",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/goiter"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "euthyroid-hyperthyroxinemia",
        "name": "Euthyroid hyperthyroxinemia",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/euthyroid-hyperthyroxinemia"
      },
      {
        "slug": "hirsutism",
        "name": "Excessive hairiness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hirsutism"
      },
      {
        "slug": "hyperhidrosis",
        "name": "Excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperhidrosis"
      },
      {
        "slug": "fatiguable-weakness-of-proximal-limb-muscles",
        "name": "Fatiguable weakness of proximal limb muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatiguable-weakness-of-proximal-limb-muscles"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "female-hypogonadism",
        "name": "Female hypogonadism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/female-hypogonadism"
      },
      {
        "slug": "pedal-edema",
        "name": "Fluid accumulation in lower limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pedal-edema"
      },
      {
        "slug": "pericardial-effusion",
        "name": "Fluid around heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pericardial-effusion"
      },
      {
        "slug": "flushing",
        "name": "Flushing",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/flushing"
      },
      {
        "slug": "fourth-cranial-nerve-palsy",
        "name": "Fourth cranial nerve palsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fourth-cranial-nerve-palsy"
      },
      {
        "slug": "elevated-circulating-growth-hormone-concentration",
        "name": "Growth hormone excess",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-growth-hormone-concentration"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "myocardial-infarction",
        "name": "Heart attack",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myocardial-infarction"
      },
      {
        "slug": "hemianopia",
        "name": "Hemianopia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemianopia"
      },
      {
        "slug": "heteronymous-hemianopia",
        "name": "Heteronymous hemianopia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/heteronymous-hemianopia"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "increased-urinary-cortisol-level",
        "name": "High urine cortisol level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-urinary-cortisol-level"
      },
      {
        "slug": "hypogonadotropic-hypogonadism",
        "name": "Hypogonadotropic hypogonadism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypogonadotropic-hypogonadism"
      },
      {
        "slug": "impaired-glucose-tolerance",
        "name": "Impaired glucose tolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-glucose-tolerance"
      },
      {
        "slug": "increased-body-weight",
        "name": "Increased body weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-body-weight"
      },
      {
        "slug": "increased-circulating-acth-level",
        "name": "Increased circulating ACTH level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-acth-level"
      },
      {
        "slug": "increased-circulating-cortisol-level",
        "name": "Increased circulating cortisol level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-cortisol-level"
      },
      {
        "slug": "increased-circulating-gonadotropin-level",
        "name": "Increased circulating gonadotropin level",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-circulating-gonadotropin-level"
      },
      {
        "slug": "increased-circulating-prolactin-concentration",
        "name": "Increased circulating prolactin concentration",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-circulating-prolactin-concentration"
      },
      {
        "slug": "infertility",
        "name": "Infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/infertility"
      },
      {
        "slug": "internal-ophthalmoplegia",
        "name": "Internal ophthalmoplegia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/internal-ophthalmoplegia"
      },
      {
        "slug": "oligomenorrhea",
        "name": "Light or infrequent menstrual periods",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oligomenorrhea"
      },
      {
        "slug": "livedo-reticularis",
        "name": "Livedo reticularis",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/livedo-reticularis"
      },
      {
        "slug": "peripheral-visual-field-loss",
        "name": "Loss of peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-visual-field-loss"
      },
      {
        "slug": "hypokalemia",
        "name": "Low blood potassium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypokalemia"
      },
      {
        "slug": "hypotension",
        "name": "Low blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotension"
      },
      {
        "slug": "pituitary-hypothyroidism",
        "name": "Low thyroid gland function due to abnormal pituitary gland",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pituitary-hypothyroidism"
      },
      {
        "slug": "memory-impairment",
        "name": "Memory impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/memory-impairment"
      },
      {
        "slug": "irregular-menstruation",
        "name": "Menstrual irregularity",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/irregular-menstruation"
      },
      {
        "slug": "moon-facies",
        "name": "Moon face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/moon-facies"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "nausea-and-vomiting",
        "name": "Nausea and vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nausea-and-vomiting"
      },
      {
        "slug": "pituitary-adenoma",
        "name": "Noncancerous tumor in pituitary gland",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/pituitary-adenoma"
      },
      {
        "slug": "oculomotor-nerve-palsy",
        "name": "Oculomotor nerve palsy",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oculomotor-nerve-palsy"
      },
      {
        "slug": "skin-ulcer",
        "name": "Open skin sore",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skin-ulcer"
      },
      {
        "slug": "optic-nerve-compression",
        "name": "Optic nerve compression",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/optic-nerve-compression"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "hyperthyroidism",
        "name": "Overactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperthyroidism"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "palpitations",
        "name": "Palpitations",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/palpitations"
      },
      {
        "slug": "panic-attack",
        "name": "Panic attack",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/panic-attack"
      },
      {
        "slug": "paradoxical-increased-cortisol-secretion-on-dexamethasone-suppression-test",
        "name": "Paradoxical increased cortisol secretion on dexamethasone suppression test",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/paradoxical-increased-cortisol-secretion-on-dexamethasone-suppression-test"
      },
      {
        "slug": "paranoia",
        "name": "Paranoia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/paranoia"
      },
      {
        "slug": "visual-field-defect",
        "name": "Partial loss of field of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/visual-field-defect"
      },
      {
        "slug": "hyperpigmentation-of-the-skin",
        "name": "Patchy darkened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin"
      },
      {
        "slug": "periodic-hypokalemic-paresis",
        "name": "Periodic hypokalemic paresis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/periodic-hypokalemic-paresis"
      },
      {
        "slug": "pituitary-corticotropic-cell-adenoma",
        "name": "Pituitary corticotropic cell adenoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pituitary-corticotropic-cell-adenoma"
      },
      {
        "slug": "plethora",
        "name": "Plethora",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/plethora"
      },
      {
        "slug": "poor-wound-healing",
        "name": "Poor wound healing",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/poor-wound-healing"
      },
      {
        "slug": "prelingual-sensorineural-hearing-impairment",
        "name": "Prelingual sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prelingual-sensorineural-hearing-impairment"
      },
      {
        "slug": "secondary-amenorrhea",
        "name": "Previous menstrual periods stop",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/secondary-amenorrhea"
      },
      {
        "slug": "progressive-visual-loss",
        "name": "Progressive loss of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-visual-loss"
      },
      {
        "slug": "psychosis",
        "name": "Psychosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/psychosis"
      },
      {
        "slug": "psychotic-episodes",
        "name": "Psychotic episodes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/psychotic-episodes"
      },
      {
        "slug": "recurrent-cutaneous-fungal-infections",
        "name": "Recurrent cutaneous fungal infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-cutaneous-fungal-infections"
      },
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "slug": "secondary-growth-hormone-deficiency",
        "name": "Secondary growth hormone deficiency",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/secondary-growth-hormone-deficiency"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "sparse-scalp-hair",
        "name": "Sparse scalp hair",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sparse-scalp-hair"
      },
      {
        "slug": "galactorrhea",
        "name": "Spontaneous milk flow from breast",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/galactorrhea"
      },
      {
        "slug": "striae-distensae",
        "name": "Stretch marks",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/striae-distensae"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "sudden-loss-of-visual-acuity",
        "name": "Sudden decrease in vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sudden-loss-of-visual-acuity"
      },
      {
        "slug": "suicidal-ideation",
        "name": "Suicidal ideation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/suicidal-ideation"
      },
      {
        "slug": "supraventricular-arrhythmia",
        "name": "Supraventricular arrhythmia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/supraventricular-arrhythmia"
      },
      {
        "slug": "thin-skin",
        "name": "Thin skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-skin"
      },
      {
        "slug": "thyroid-crisis",
        "name": "Thyroid crisis",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thyroid-crisis"
      },
      {
        "slug": "easy-fatigability",
        "name": "Tired easily",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/easy-fatigability"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "truncal-obesity",
        "name": "Truncal obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/truncal-obesity"
      },
      {
        "slug": "ventricular-arrhythmia",
        "name": "Ventricular arrhythmia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-arrhythmia"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-loss"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "proximal-amyotrophy",
        "name": "Wasting of muscles near the body",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proximal-amyotrophy"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "myo7a",
        "symbol": "MYO7A",
        "name": "myosin VIIA",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/myo7a"
      },
      {
        "slug": "pcdh15",
        "symbol": "PCDH15",
        "name": "protocadherin related 15",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/pcdh15"
      },
      {
        "slug": "ush1c",
        "symbol": "USH1C",
        "name": "USH1 protein network component harmonin",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/ush1c"
      },
      {
        "slug": "whrn",
        "symbol": "WHRN",
        "name": "whirlin",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/whrn"
      },
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/actg1"
      },
      {
        "slug": "adgrv1",
        "symbol": "ADGRV1",
        "name": "adhesion G protein-coupled receptor V1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/adgrv1"
      },
      {
        "slug": "afg2b",
        "symbol": "AFG2B",
        "name": "AAA ATPase AFG2B",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/afg2b"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/aifm1"
      },
      {
        "slug": "arsg",
        "symbol": "ARSG",
        "name": "arylsulfatase G",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/arsg"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/atp2b2"
      },
      {
        "slug": "cabp2",
        "symbol": "CABP2",
        "name": "calcium binding protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/cabp2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 3,
    "url": "https://dantelabs.com/genes/cdh23/variants",
    "items": [
      {
        "slug": "d127g",
        "name": "D127G",
        "commonName": null,
        "symbol": "CDH23",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.380A>G",
        "position": 71511163,
        "grch37Position": 73270920,
        "part": {
          "kind": "exon",
          "number": 6
        },
        "url": "https://dantelabs.com/genes/cdh23/variants/d127g"
      },
      {
        "slug": "p240l",
        "name": "P240L",
        "commonName": null,
        "symbol": "CDH23",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.719C>T",
        "position": 71570884,
        "grch37Position": 73330641,
        "part": {
          "kind": "exon",
          "number": 8
        },
        "url": "https://dantelabs.com/genes/cdh23/variants/p240l"
      },
      {
        "slug": "r2029w",
        "name": "R2029W",
        "commonName": null,
        "symbol": "CDH23",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.6085C>T",
        "position": 71791167,
        "grch37Position": 73550924,
        "part": {
          "kind": "exon",
          "number": 47
        },
        "url": "https://dantelabs.com/genes/cdh23/variants/r2029w"
      }
    ]
  }
}