{
  "url": "https://dantelabs.com/da/genes/nr5a1",
  "gene": {
    "slug": "nr5a1",
    "symbol": "NR5A1",
    "name": "nuclear receptor subfamily 5 group A member 1",
    "hgnc": "HGNC:7983",
    "summary": null,
    "location": "9q33.3",
    "locusType": "gene with protein product",
    "aliases": [
      "FTZ1",
      "SF-1",
      "ELP",
      "AD4BP",
      "hSF-1",
      "SF1"
    ],
    "previousSymbols": [
      "FTZF1"
    ],
    "ensemblId": "ENSG00000136931",
    "entrezId": 2516,
    "omim": [
      "184757"
    ],
    "uniprot": [
      "Q13285"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 124481236,
      "end": 124507399,
      "strand": "-",
      "ensemblTranscript": "ENST00000373588.9",
      "refseqTranscript": "NM_004959.5",
      "ensemblProtein": "ENSP00000362690.4",
      "refseqProtein": "NP_004950.2",
      "exons": [
        {
          "start": 124481236,
          "end": 124483005
        },
        {
          "start": 124491081,
          "end": 124491228
        },
        {
          "start": 124493030,
          "end": 124493149
        },
        {
          "start": 124500090,
          "end": 124500715
        },
        {
          "start": 124503079,
          "end": 124503220
        },
        {
          "start": 124503294,
          "end": 124503410
        },
        {
          "start": 124507249,
          "end": 124507399
        }
      ],
      "cds": {
        "start": 124482758,
        "end": 124503395
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
      "start": 127243516,
      "end": 127269709,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 123994318,
      "end": 124994317,
      "genes": [
        {
          "symbol": "LHX2",
          "ensemblId": "ENSG00000106689",
          "biotype": "protein_coding",
          "start": 124001670,
          "end": 124033301,
          "strand": "+",
          "slug": "lhx2"
        },
        {
          "symbol": "NEK6",
          "ensemblId": "ENSG00000119408",
          "biotype": "protein_coding",
          "start": 124257606,
          "end": 124412783,
          "strand": "+",
          "slug": "nek6"
        },
        {
          "symbol": "PSMB7",
          "ensemblId": "ENSG00000136930",
          "biotype": "protein_coding",
          "start": 124352999,
          "end": 124415476,
          "strand": "-",
          "slug": "psmb7"
        },
        {
          "symbol": "ADGRD2",
          "ensemblId": "ENSG00000180264",
          "biotype": "protein_coding",
          "start": 124450444,
          "end": 124478589,
          "strand": "+",
          "slug": "adgrd2"
        },
        {
          "symbol": "NR6A1",
          "ensemblId": "ENSG00000148200",
          "biotype": "protein_coding",
          "start": 124517275,
          "end": 124771349,
          "strand": "-",
          "slug": "nr6a1"
        },
        {
          "symbol": "OLFML2A",
          "ensemblId": "ENSG00000185585",
          "biotype": "protein_coding",
          "start": 124777099,
          "end": 124815709,
          "strand": "+",
          "slug": "olfml2a"
        },
        {
          "symbol": "WDR38",
          "ensemblId": "ENSG00000136918",
          "biotype": "protein_coding",
          "start": 124853266,
          "end": 124859596,
          "strand": "+",
          "slug": "wdr38"
        },
        {
          "symbol": "RPL35",
          "ensemblId": "ENSG00000136942",
          "biotype": "protein_coding",
          "start": 124857873,
          "end": 124862017,
          "strand": "-",
          "slug": "rpl35"
        },
        {
          "symbol": "ARPC5L",
          "ensemblId": "ENSG00000136950",
          "biotype": "protein_coding",
          "start": 124862109,
          "end": 124877750,
          "strand": "+",
          "slug": "arpc5l"
        },
        {
          "symbol": "GOLGA1",
          "ensemblId": "ENSG00000136935",
          "biotype": "protein_coding",
          "start": 124878275,
          "end": 124948492,
          "strand": "-",
          "slug": "golga1"
        },
        {
          "symbol": "SCAI",
          "ensemblId": "ENSG00000173611",
          "biotype": "protein_coding",
          "start": 124942608,
          "end": 125143582,
          "strand": "-",
          "slug": "scai"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "46-xx-differences-of-sex-development",
        "name": "46,XX-kønsudviklingsforstyrrelser",
        "diseases": [
          {
            "mondoId": "MONDO:0017576",
            "name": "46,XX-kønsudviklingsforstyrrelser",
            "genes": 4,
            "inheritance": null,
            "description": "Tilstande, herunder XX-testikulær og ovotestikulær kønsudviklingsforstyrrelse, som oftest skyldes et translokeret SRY-gen eller ændringer i SOX9 eller SOX3, og sjældnere skyldes varianter i NR5A1, RSPO1 eller WNT4.",
            "management": "En diagnose forklarer azoospermi, giver vejledning til hormonbehandling og fører ved RSPO1-relateret sygdom til overvågning for hudkræft.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/46-xx-differences-of-sex-development"
      },
      {
        "slug": "46-xy-differences-of-sex-development",
        "name": "46,XY-forskelle i kønsudvikling og gonadedysgenese",
        "diseases": [
          {
            "mondoId": "MONDO:1060211",
            "name": "NR5A1-relateret kønsudviklingsforstyrrelse",
            "genes": 1,
            "inheritance": null,
            "description": "Et spektrum af tilstande forårsaget af varianter i NR5A1 (SF1), fra 46,XY-gonadedysgenese til mandlig infertilitet og primær ovarieinsufficiens.",
            "management": "En diagnose vejleder fertilitetsrådgivning og familietestning.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0010765",
            "name": "46,XY komplet gonadedysgenese (Swyer syndrom)",
            "genes": 6,
            "inheritance": null,
            "description": "En tilstand, hvor personer med XY-kromosomer har uudviklede streak-gonader og et kvindeligt udseende, forårsaget af varianter i SRY, NR5A1, MAP3K1, DHH og andre gener.",
            "management": "Streak-gonader har høj risiko for gonadoblastom, og fjernelse anbefales derfor normalt, og hormonerstatning er nødvendig under puberteten.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0020040",
            "name": "46,XY-forskelle i kønsudvikling",
            "genes": 14,
            "inheritance": null,
            "description": "Tilstande hos personer med XY-kromosomer, hvor udviklingen af gonader eller kønsorganer er atypisk, forårsaget af varianter i gener som SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1 og LHCGR.",
            "management": "En diagnose vejleder hormonbehandling, fertilitetsrådgivning og, hvis dysgenetiske gonader indeholder Y-materiale, vurdering af risikoen for gonadetumorer.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/46-xy-differences-of-sex-development"
      },
      {
        "slug": "female-infertility",
        "name": "Infertilitet hos kvinder",
        "diseases": [
          {
            "mondoId": "MONDO:0021124",
            "name": "Infertilitet hos kvinder",
            "genes": 37,
            "inheritance": null,
            "description": "Nedsat eller manglende evne hos en kvinde til at opnå graviditet.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/female-infertility"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Hypertrofisk kardiomyopati",
        "diseases": [
          {
            "mondoId": "MONDO:0005045",
            "name": "Hypertrofisk kardiomyopati",
            "genes": 62,
            "inheritance": "autosomal-dominant",
            "description": "En tilstand, hvor myokardiet er hypertrofieret uden en tydelig årsag. Hypertrofien er generelt asymmetrisk og kan være forbundet med obstruktion af ventrikulær udflydningsbane.",
            "management": "Betablokkere, ikke-dihydropyridin calciumkanalblokkere, begrænsning af fysisk aktivitet, genetisk rådgivning",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/da/conditions/hypertrophic-cardiomyopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cardiovascular-system-morphology",
        "name": "Abnormal cardiovascular system morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology"
      },
      {
        "slug": "abnormal-internal-genitalia",
        "name": "Abnormal internal genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-internal-genitalia"
      },
      {
        "slug": "abnormal-labia-morphology",
        "name": "Abnormal labia morphology",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-labia-morphology"
      },
      {
        "slug": "abnormal-male-internal-genitalia-morphology",
        "name": "Abnormal male internal genitalia morphology",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-male-internal-genitalia-morphology"
      },
      {
        "slug": "abnormal-morphology-of-female-internal-genitalia",
        "name": "Abnormal morphology of female internal genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-morphology-of-female-internal-genitalia"
      },
      {
        "slug": "abnormal-scrotal-rugation",
        "name": "Abnormal scrotal rugation",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-scrotal-rugation"
      },
      {
        "slug": "abnormal-scrotum-morphology",
        "name": "Abnormal scrotum morphology",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-scrotum-morphology"
      },
      {
        "slug": "abnormal-sex-determination",
        "name": "Abnormal sex determination",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-sex-determination"
      },
      {
        "slug": "abnormal-spermatogenesis",
        "name": "Abnormal sperm development",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-spermatogenesis"
      },
      {
        "slug": "abnormal-vagina-morphology",
        "name": "Abnormal vagina morphology",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-vagina-morphology"
      },
      {
        "slug": "abnormality-of-secondary-sexual-hair",
        "name": "Abnormality of secondary sexual hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-secondary-sexual-hair"
      },
      {
        "slug": "abnormality-of-the-uterus",
        "name": "Abnormality of the uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-uterus"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "absence-of-secondary-sex-characteristics",
        "name": "Absence of secondary sex characteristics",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absence-of-secondary-sex-characteristics"
      },
      {
        "slug": "absent-pubic-hair",
        "name": "Absent pubic hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absent-pubic-hair"
      },
      {
        "slug": "azoospermia",
        "name": "Absent sperm in semen",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/azoospermia"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-breasts",
        "name": "Absent/small breasts",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-breasts"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-uterus",
        "name": "Absent/small uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-uterus"
      },
      {
        "slug": "adrenal-insufficiency",
        "name": "Adrenal insufficiency",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/adrenal-insufficiency"
      },
      {
        "slug": "ambiguous-genitalia",
        "name": "Ambiguous external genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ambiguous-genitalia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "bifid-scrotum",
        "name": "Cleft of scrotum",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bifid-scrotum"
      },
      {
        "slug": "cryptozoospermia",
        "name": "Cryptozoospermia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/cryptozoospermia"
      },
      {
        "slug": "decreased-fertility",
        "name": "Decreased fertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-fertility"
      },
      {
        "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": "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": "decreased-serum-estradiol",
        "name": "Decreased serum estradiol",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-serum-estradiol"
      },
      {
        "slug": "decreased-serum-testosterone-concentration",
        "name": "Decreased serum testosterone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-serum-testosterone-concentration"
      },
      {
        "slug": "decreased-testicular-size",
        "name": "Decreased testicular size",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-testicular-size"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "dysplastic-testis",
        "name": "Dysplastic testis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dysplastic-testis"
      },
      {
        "slug": "premature-ovarian-insufficiency",
        "name": "Early menopause",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/premature-ovarian-insufficiency"
      },
      {
        "slug": "elevated-circulating-follicle-stimulating-hormone-level",
        "name": "Elevated circulating follicle stimulating hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-follicle-stimulating-hormone-level"
      },
      {
        "slug": "elevated-circulating-luteinizing-hormone-level",
        "name": "Elevated circulating luteinizing hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-luteinizing-hormone-level"
      },
      {
        "slug": "clitoral-hypertrophy",
        "name": "Enlarged clitoris",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/clitoral-hypertrophy"
      },
      {
        "slug": "gynecomastia",
        "name": "Enlarged male breast",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gynecomastia"
      },
      {
        "slug": "exaggerated-rugosity-of-the-labia-majora",
        "name": "Exaggerated rugosity of the labia majora",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exaggerated-rugosity-of-the-labia-majora"
      },
      {
        "slug": "female-external-genitalia-in-individual-with-46-xy-karyotype",
        "name": "Female external genitalia in individual with 46,XY karyotype",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/female-external-genitalia-in-individual-with-46-xy-karyotype"
      },
      {
        "slug": "fused-labia-majora",
        "name": "Fused labia majora",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fused-labia-majora"
      },
      {
        "slug": "gonadal-dysgenesis",
        "name": "Gonadal dysgenesis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gonadal-dysgenesis"
      },
      {
        "slug": "gonadoblastoma",
        "name": "Gonadoblastoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gonadoblastoma"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hypergonadotropic-hypogonadism",
        "name": "Hypergonadotropic hypogonadism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypergonadotropic-hypogonadism"
      },
      {
        "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": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "increased-circulating-gonadotropin-level",
        "name": "Increased circulating gonadotropin level",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-gonadotropin-level"
      },
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "sparse-axillary-hair",
        "name": "Limited armpit hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-axillary-hair"
      },
      {
        "slug": "arachnodactyly",
        "name": "Long slender fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/arachnodactyly"
      },
      {
        "slug": "reduced-bone-mineral-density",
        "name": "Low solidness and mass of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-bone-mineral-density"
      },
      {
        "slug": "oligozoospermia",
        "name": "Low sperm count",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/oligozoospermia"
      },
      {
        "slug": "male-infertility",
        "name": "Male infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/male-infertility"
      },
      {
        "slug": "male-pseudohermaphroditism",
        "name": "Male pseudohermaphroditism",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/male-pseudohermaphroditism"
      },
      {
        "slug": "nephroblastoma",
        "name": "Nephroblastoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/nephroblastoma"
      },
      {
        "slug": "nephrotic-syndrome",
        "name": "Nephrotic syndrome",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/nephrotic-syndrome"
      },
      {
        "slug": "non-obstructive-azoospermia",
        "name": "Non-obstructive azoospermia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/non-obstructive-azoospermia"
      },
      {
        "slug": "obstructive-azoospermia",
        "name": "Obstructive azoospermia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/obstructive-azoospermia"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "osteoporosis-of-vertebrae",
        "name": "Osteoporosis of vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteoporosis-of-vertebrae"
      },
      {
        "slug": "ovarian-gonadoblastoma",
        "name": "Ovarian gonadoblastoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ovarian-gonadoblastoma"
      },
      {
        "slug": "ovotestis",
        "name": "Ovotestis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ovotestis"
      },
      {
        "slug": "penoscrotal-hypospadias",
        "name": "Penoscrotal hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/penoscrotal-hypospadias"
      },
      {
        "slug": "polycystic-ovaries",
        "name": "Polycystic ovaries",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/polycystic-ovaries"
      },
      {
        "slug": "secondary-amenorrhea",
        "name": "Previous menstrual periods stop",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/secondary-amenorrhea"
      },
      {
        "slug": "primary-amenorrhea",
        "name": "Primary amenorrhea",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/primary-amenorrhea"
      },
      {
        "slug": "primary-gonadal-insufficiency",
        "name": "Primary gonadal insufficiency",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/primary-gonadal-insufficiency"
      },
      {
        "slug": "pulmonary-fibrosis",
        "name": "Pulmonary scarring",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pulmonary-fibrosis"
      },
      {
        "slug": "retractile-testis",
        "name": "Retractile testis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retractile-testis"
      },
      {
        "slug": "sex-reversal",
        "name": "Sex reversal",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sex-reversal"
      },
      {
        "slug": "micropenis",
        "name": "Short penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micropenis"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "hypoplasia-of-the-uterus",
        "name": "Small uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-uterus"
      },
      {
        "slug": "small-scrotum",
        "name": "Smaller than typical growth of scrotum",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/small-scrotum"
      },
      {
        "slug": "sparse-pubic-hair",
        "name": "Sparse pubic hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-pubic-hair"
      },
      {
        "slug": "streak-ovary",
        "name": "Streak ovary",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/streak-ovary"
      },
      {
        "slug": "testicular-gonadoblastoma",
        "name": "Testicular gonadoblastoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/testicular-gonadoblastoma"
      },
      {
        "slug": "true-hermaphroditism",
        "name": "True hermaphroditism",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/true-hermaphroditism"
      },
      {
        "slug": "hypoplasia-of-penis",
        "name": "Underdeveloped penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-penis"
      },
      {
        "slug": "hypoplasia-of-the-vagina",
        "name": "Underdeveloped vagina",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-vagina"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "urogenital-sinus-anomaly",
        "name": "Urogenital sinus anomaly",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/urogenital-sinus-anomaly"
      },
      {
        "slug": "vanishing-testis",
        "name": "Vanishing testis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/vanishing-testis"
      }
    ],
    "related": [
      {
        "slug": "dhh",
        "symbol": "DHH",
        "name": "desert hedgehog signaling molecule",
        "shared": 3,
        "url": "https://dantelabs.com/da/genes/dhh"
      },
      {
        "slug": "map3k1",
        "symbol": "MAP3K1",
        "name": "mitogen-activated protein kinase kinase kinase 1",
        "shared": 3,
        "url": "https://dantelabs.com/da/genes/map3k1"
      },
      {
        "slug": "sry",
        "symbol": "SRY",
        "name": "sex determining region Y",
        "shared": 3,
        "url": "https://dantelabs.com/da/genes/sry"
      },
      {
        "slug": "zfpm2",
        "symbol": "ZFPM2",
        "name": "zinc finger protein, FOG family member 2",
        "shared": 3,
        "url": "https://dantelabs.com/da/genes/zfpm2"
      },
      {
        "slug": "dhx37",
        "symbol": "DHX37",
        "name": "DEAH-box helicase 37",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/dhx37"
      },
      {
        "slug": "acadvl",
        "symbol": "ACADVL",
        "name": "acyl-CoA dehydrogenase very long chain",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/acadvl"
      },
      {
        "slug": "actc1",
        "symbol": "ACTC1",
        "name": "actin alpha cardiac muscle 1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/actc1"
      },
      {
        "slug": "alpk3",
        "symbol": "ALPK3",
        "name": "alpha kinase 3",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/alpk3"
      },
      {
        "slug": "ankrd31",
        "symbol": "ANKRD31",
        "name": "ankyrin repeat domain 31",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/ankrd31"
      },
      {
        "slug": "ar",
        "symbol": "AR",
        "name": "androgen receptor",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/ar"
      },
      {
        "slug": "atm",
        "symbol": "ATM",
        "name": "ATM serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/atm"
      },
      {
        "slug": "atrx",
        "symbol": "ATRX",
        "name": "ATRX chromatin remodeler",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/atrx"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}