{
  "url": "https://dantelabs.com/it/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": "Disturbi dello sviluppo sessuale 46,XY e disgenesia gonadica",
        "diseases": [
          {
            "mondoId": "MONDO:0020040",
            "name": "Disturbi dello sviluppo sessuale 46,XY",
            "genes": 14,
            "inheritance": null,
            "description": "Condizioni in persone con cromosomi XY in cui lo sviluppo gonadico o genitale è atipico, causate da varianti in geni quali SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1 e LHCGR.",
            "management": "La diagnosi orienta la terapia ormonale, la consulenza sulla fertilità e, qualora le gonadi disgenetiche contengano materiale del cromosoma Y, la valutazione del rischio di tumori gonadici.",
            "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/it/conditions/46-xy-differences-of-sex-development"
      },
      {
        "slug": "androgen-insensitivity-syndrome",
        "name": "Sindrome da insensibilità agli androgeni",
        "diseases": [
          {
            "mondoId": "MONDO:0019154",
            "name": "Sindrome da insensibilità agli androgeni (completa e parziale)",
            "genes": 1,
            "inheritance": "x-linked-recessive",
            "description": "Una differenza dello sviluppo sessuale causata da varianti nel gene del recettore degli androgeni AR, che va dall'insensibilità completa (aspetto tipicamente femminile) alle forme parziali con genitali ambigui o virilizzazione insufficiente.",
            "management": "La diagnosi orienta la gestione ormonale e le decisioni sui tempi di rimozione delle gonadi; una madre portatrice ha una probabilità del 50% di trasmettere la variante a ciascun figlio XY.",
            "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/it/conditions/androgen-insensitivity-syndrome"
      },
      {
        "slug": "spinal-and-bulbar-muscular-atrophy",
        "name": "Atrofia muscolare spinale e bulbare (malattia di Kennedy)",
        "diseases": [
          {
            "mondoId": "MONDO:0010735",
            "name": "Atrofia muscolare spinale e bulbare (malattia di Kennedy)",
            "genes": 1,
            "inheritance": "x-linked-recessive",
            "description": "Una malattia dei motoneuroni a progressione lenta, causata da un'espansione della ripetizione CAG nel gene del recettore degli androgeni (AR), con debolezza degli arti e bulbare e lieve insensibilità agli androgeni.",
            "management": "Fisioterapia, valutazione logopedica e della deglutizione, controlli endocrinologici e consulenza genetica per le parenti di sesso femminile che potrebbero essere portatrici.",
            "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/it/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/it/genes/atrx"
      },
      {
        "slug": "cyp11a1",
        "symbol": "CYP11A1",
        "name": "cytochrome P450 family 11 subfamily A member 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/cyp11a1"
      },
      {
        "slug": "dhh",
        "symbol": "DHH",
        "name": "desert hedgehog signaling molecule",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/dhh"
      },
      {
        "slug": "dmrt1",
        "symbol": "DMRT1",
        "name": "doublesex and mab-3 related transcription factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/dmrt1"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "name": "GATA binding protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/gata4"
      },
      {
        "slug": "hhat",
        "symbol": "HHAT",
        "name": "hedgehog acyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/hhat"
      },
      {
        "slug": "hsd17b3",
        "symbol": "HSD17B3",
        "name": "hydroxysteroid 17-beta dehydrogenase 3",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/hsd17b3"
      },
      {
        "slug": "map3k1",
        "symbol": "MAP3K1",
        "name": "mitogen-activated protein kinase kinase kinase 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/map3k1"
      },
      {
        "slug": "nr5a1",
        "symbol": "NR5A1",
        "name": "nuclear receptor subfamily 5 group A member 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/nr5a1"
      },
      {
        "slug": "srd5a2",
        "symbol": "SRD5A2",
        "name": "steroid 5 alpha-reductase 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/srd5a2"
      },
      {
        "slug": "tspyl1",
        "symbol": "TSPYL1",
        "name": "TSPY like 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/tspyl1"
      },
      {
        "slug": "wt1",
        "symbol": "WT1",
        "name": "WT1 transcription factor",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/wt1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}