{
  "url": "https://dantelabs.com/cs/genes/ar",
  "gene": {
    "slug": "ar",
    "symbol": "AR",
    "name": "androgen receptor",
    "hgnc": "HGNC:644",
    "summary": null,
    "location": "Xq12",
    "locusType": "gene with protein product",
    "aliases": [
      "AIS",
      "NR3C4",
      "SMAX1",
      "HUMARA"
    ],
    "previousSymbols": [
      "DHTR",
      "SBMA"
    ],
    "ensemblId": "ENSG00000169083",
    "entrezId": 367,
    "omim": [
      "313700"
    ],
    "uniprot": [
      "P10275"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 67544021,
      "end": 67730619,
      "strand": "+",
      "ensemblTranscript": "ENST00000374690.9",
      "refseqTranscript": "NM_000044.6",
      "ensemblProtein": "ENSP00000363822.3",
      "refseqProtein": "NP_000035.2",
      "exons": [
        {
          "start": 67544021,
          "end": 67546762
        },
        {
          "start": 67643256,
          "end": 67643407
        },
        {
          "start": 67686010,
          "end": 67686126
        },
        {
          "start": 67711402,
          "end": 67711689
        },
        {
          "start": 67717478,
          "end": 67717622
        },
        {
          "start": 67721833,
          "end": 67721963
        },
        {
          "start": 67722827,
          "end": 67722984
        },
        {
          "start": 67723686,
          "end": 67730619
        }
      ],
      "cds": {
        "start": 67545147,
        "end": 67723841
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 66764465,
      "end": 66950461,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 67137320,
      "end": 68137319,
      "genes": [
        {
          "symbol": "OPHN1",
          "ensemblId": "ENSG00000079482",
          "biotype": "protein_coding",
          "start": 67949349,
          "end": 68434120,
          "strand": "-",
          "slug": "ophn1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "46-xy-differences-of-sex-development",
        "name": "46,XY Differences of Sex Development and Gonadal Dysgenesis",
        "diseases": [
          {
            "mondoId": "MONDO:0020040",
            "name": "46,XY differences of sex development",
            "genes": 14,
            "inheritance": null,
            "description": "Conditions in people with XY chromosomes in which gonadal or genital development is atypical, caused by variants in genes such as SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1 and LHCGR.",
            "management": "Diagnosis informs hormone treatment, fertility counselling and, where dysgenetic gonads carry Y material, assessment of gonadal tumour risk.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/46-xy-differences-of-sex-development"
      },
      {
        "slug": "androgen-insensitivity-syndrome",
        "name": "Androgen Insensitivity Syndrome",
        "diseases": [
          {
            "mondoId": "MONDO:0019154",
            "name": "Androgen insensitivity syndrome (complete and partial)",
            "genes": 1,
            "inheritance": "x-linked-recessive",
            "description": "A difference of sex development caused by variants in the androgen receptor gene AR, ranging from complete insensitivity (typical female appearance) to partial forms with ambiguous genitalia or undervirilisation.",
            "management": "Diagnosis informs hormone management and decisions on the timing of gonad removal, and a carrier mother has a 50% chance of passing the variant to each XY child.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/androgen-insensitivity-syndrome"
      },
      {
        "slug": "spinal-and-bulbar-muscular-atrophy",
        "name": "Spinal and Bulbar Muscular Atrophy (Kennedy Disease)",
        "diseases": [
          {
            "mondoId": "MONDO:0010735",
            "name": "Spinal and Bulbar Muscular Atrophy (Kennedy Disease)",
            "genes": 1,
            "inheritance": "x-linked-recessive",
            "description": "A slowly progressive motor neuronopathy caused by an expanded CAG repeat in the androgen receptor (AR) gene, with limb and bulbar weakness and mild androgen insensitivity.",
            "management": "Physiotherapy, speech and swallowing assessment, endocrine follow-up, and genetic counselling for female relatives who may be carriers.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/spinal-and-bulbar-muscular-atrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-estrogen-level",
        "name": "Abnormal circulating estrogen level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-estrogen-level"
      },
      {
        "slug": "abnormal-circulating-follicle-stimulating-hormone-concentration",
        "name": "Abnormal circulating follicle-stimulating hormone concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-circulating-follicle-stimulating-hormone-concentration"
      },
      {
        "slug": "abnormal-circulating-lipid-concentration",
        "name": "Abnormal circulating lipid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-circulating-lipid-concentration"
      },
      {
        "slug": "erectile-dysfunction",
        "name": "Abnormal erection",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/erectile-dysfunction"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "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": "neoplasm",
        "name": "Abnormal tissue mass",
        "systems": [],
        "url": "https://dantelabs.com/traits/neoplasm"
      },
      {
        "slug": "abnormal-uterine-cervix-morphology",
        "name": "Abnormal uterine cervix morphology",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-uterine-cervix-morphology"
      },
      {
        "slug": "abnormality-of-movement",
        "name": "Abnormality of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-movement"
      },
      {
        "slug": "abnormality-of-secondary-sexual-hair",
        "name": "Abnormality of secondary sexual hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-secondary-sexual-hair"
      },
      {
        "slug": "abnormality-of-the-endocrine-system",
        "name": "Abnormality of the endocrine system",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-endocrine-system"
      },
      {
        "slug": "abnormality-of-the-mouth",
        "name": "Abnormality of the mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-the-mouth"
      },
      {
        "slug": "abnormal-rib-cage-morphology",
        "name": "Abnormality of the rib cage",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-rib-cage-morphology"
      },
      {
        "slug": "anal-atresia",
        "name": "Absent anus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anal-atresia"
      },
      {
        "slug": "absent-axillary-hair",
        "name": "Absent axillary hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-axillary-hair"
      },
      {
        "slug": "absent-facial-hair",
        "name": "Absent facial hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/absent-facial-hair"
      },
      {
        "slug": "aplasia-of-the-ovary",
        "name": "Absent ovary",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-of-the-ovary"
      },
      {
        "slug": "absent-pubic-hair",
        "name": "Absent pubic hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-pubic-hair"
      },
      {
        "slug": "azoospermia",
        "name": "Absent sperm in semen",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/azoospermia"
      },
      {
        "slug": "aplasia-of-the-uterus",
        "name": "Absent uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-of-the-uterus"
      },
      {
        "slug": "absent-vas-deferens",
        "name": "Absent vas deferens",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/absent-vas-deferens"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-fallopian-tube",
        "name": "Absent/small fallopian tube",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-fallopian-tube"
      },
      {
        "slug": "acne",
        "name": "Acne",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/acne"
      },
      {
        "slug": "ambiguous-genitalia",
        "name": "Ambiguous external genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ambiguous-genitalia"
      },
      {
        "slug": "androgen-insufficiency",
        "name": "Androgen insufficiency",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/androgen-insufficiency"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "bilateral-cryptorchidism",
        "name": "Bilateral cryptorchidism",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bilateral-cryptorchidism"
      },
      {
        "slug": "esophageal-atresia",
        "name": "Birth defect in which part of esophagus did not develop",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/esophageal-atresia"
      },
      {
        "slug": "blind-vagina",
        "name": "Blind vagina",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/blind-vagina"
      },
      {
        "slug": "bulbar-palsy",
        "name": "Bulbar palsy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/bulbar-palsy"
      },
      {
        "slug": "bifid-scrotum",
        "name": "Cleft of scrotum",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bifid-scrotum"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "congenital-diaphragmatic-hernia",
        "name": "Congenital diaphragmatic hernia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congenital-diaphragmatic-hernia"
      },
      {
        "slug": "sensory-neuropathy",
        "name": "Damage to nerves that sense feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/sensory-neuropathy"
      },
      {
        "slug": "hypogonadism",
        "name": "Decreased activity of gonads",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hypogonadism"
      },
      {
        "slug": "decreased-fertility",
        "name": "Decreased fertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-fertility"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "displacement-of-the-urethral-meatus",
        "name": "Displacement of the urethral meatus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/displacement-of-the-urethral-meatus"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "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"
        ],
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-luteinizing-hormone-level"
      },
      {
        "slug": "clitoral-hypertrophy",
        "name": "Enlarged clitoris",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "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": "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": "germ-cell-neoplasia",
        "name": "Germ cell neoplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/germ-cell-neoplasia"
      },
      {
        "slug": "growth-abnormality",
        "name": "Growth abnormality",
        "systems": [],
        "url": "https://dantelabs.com/traits/growth-abnormality"
      },
      {
        "slug": "abnormally-high-pitched-voice",
        "name": "High pitched voice",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormally-high-pitched-voice"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "dysphonia",
        "name": "Inability to produce voice sounds",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dysphonia"
      },
      {
        "slug": "increased-circulating-antimullerian-hormone-concentration",
        "name": "Increased circulating antimullerian hormone concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-antimullerian-hormone-concentration"
      },
      {
        "slug": "increased-serum-estradiol",
        "name": "Increased serum estradiol",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-serum-estradiol"
      },
      {
        "slug": "calf-muscle-hypertrophy",
        "name": "Increased size of calf muscles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/calf-muscle-hypertrophy"
      },
      {
        "slug": "increased-serum-testosterone-level",
        "name": "Increased testosterone",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-serum-testosterone-level"
      },
      {
        "slug": "infertility",
        "name": "Infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/infertility"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "insulin-insensitivity",
        "name": "Insulin insensitivity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/insulin-insensitivity"
      },
      {
        "slug": "limb-muscle-weakness",
        "name": "Limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/limb-muscle-weakness"
      },
      {
        "slug": "sparse-axillary-hair",
        "name": "Limited armpit hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-axillary-hair"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/male-pseudohermaphroditism"
      },
      {
        "slug": "male-sexual-dysfunction",
        "name": "Male sexual dysfunction",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/male-sexual-dysfunction"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "fasciculations",
        "name": "Muscle twitch",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/fasciculations"
      },
      {
        "slug": "type-ii-diabetes-mellitus",
        "name": "Noninsulin-dependent diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/type-ii-diabetes-mellitus"
      },
      {
        "slug": "omphalocele",
        "name": "Omphalocele",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/omphalocele"
      },
      {
        "slug": "perineal-hypospadias",
        "name": "Perineal hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/perineal-hypospadias"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "primary-amenorrhea",
        "name": "Primary amenorrhea",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/primary-amenorrhea"
      },
      {
        "slug": "prostate-cancer",
        "name": "Prostate cancer",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/prostate-cancer"
      },
      {
        "slug": "micropenis",
        "name": "Short penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/micropenis"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "sparse-pubic-hair",
        "name": "Sparse pubic hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-pubic-hair"
      },
      {
        "slug": "tall-stature",
        "name": "Tall stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tall-stature"
      },
      {
        "slug": "testicular-neoplasm",
        "name": "Testicular cancer",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/testicular-neoplasm"
      },
      {
        "slug": "testicular-atrophy",
        "name": "Testicular degeneration",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/testicular-atrophy"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "labial-hypoplasia",
        "name": "Underdeveloped labia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/labial-hypoplasia"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "urethral-diverticulum",
        "name": "Urethral diverticulum",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/urethral-diverticulum"
      },
      {
        "slug": "urogenital-sinus-anomaly",
        "name": "Urogenital sinus anomaly",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urogenital-sinus-anomaly"
      },
      {
        "slug": "ventral-shortening-of-foreskin",
        "name": "Ventral shortening of foreskin",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventral-shortening-of-foreskin"
      }
    ],
    "related": [
      {
        "slug": "atrx",
        "symbol": "ATRX",
        "name": "ATRX chromatin remodeler",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/atrx"
      },
      {
        "slug": "cyp11a1",
        "symbol": "CYP11A1",
        "name": "cytochrome P450 family 11 subfamily A member 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/cyp11a1"
      },
      {
        "slug": "dhh",
        "symbol": "DHH",
        "name": "desert hedgehog signaling molecule",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/dhh"
      },
      {
        "slug": "dmrt1",
        "symbol": "DMRT1",
        "name": "doublesex and mab-3 related transcription factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/dmrt1"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "name": "GATA binding protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/gata4"
      },
      {
        "slug": "hhat",
        "symbol": "HHAT",
        "name": "hedgehog acyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/hhat"
      },
      {
        "slug": "hsd17b3",
        "symbol": "HSD17B3",
        "name": "hydroxysteroid 17-beta dehydrogenase 3",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/hsd17b3"
      },
      {
        "slug": "map3k1",
        "symbol": "MAP3K1",
        "name": "mitogen-activated protein kinase kinase kinase 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/map3k1"
      },
      {
        "slug": "nr5a1",
        "symbol": "NR5A1",
        "name": "nuclear receptor subfamily 5 group A member 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/nr5a1"
      },
      {
        "slug": "srd5a2",
        "symbol": "SRD5A2",
        "name": "steroid 5 alpha-reductase 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/srd5a2"
      },
      {
        "slug": "tspyl1",
        "symbol": "TSPYL1",
        "name": "TSPY like 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/tspyl1"
      },
      {
        "slug": "wt1",
        "symbol": "WT1",
        "name": "WT1 transcription factor",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/wt1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}