{
  "url": "https://dantelabs.com/el/genes/trip13",
  "gene": {
    "slug": "trip13",
    "symbol": "TRIP13",
    "name": "thyroid hormone receptor interactor 13",
    "hgnc": "HGNC:12307",
    "summary": null,
    "location": "5p15.33",
    "locusType": "gene with protein product",
    "aliases": [
      "16E1BP"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000071539",
    "entrezId": 9319,
    "omim": [
      "604507"
    ],
    "uniprot": [
      "Q15645"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 892884,
      "end": 918120,
      "strand": "+",
      "ensemblTranscript": "ENST00000166345.8",
      "refseqTranscript": "NM_004237.4",
      "ensemblProtein": "ENSP00000166345.3",
      "refseqProtein": "NP_004228.1",
      "exons": [
        {
          "start": 892884,
          "end": 893090
        },
        {
          "start": 894787,
          "end": 894952
        },
        {
          "start": 896665,
          "end": 896794
        },
        {
          "start": 900494,
          "end": 900549
        },
        {
          "start": 901341,
          "end": 901431
        },
        {
          "start": 904148,
          "end": 904220
        },
        {
          "start": 907130,
          "end": 907193
        },
        {
          "start": 907988,
          "end": 908074
        },
        {
          "start": 908355,
          "end": 908461
        },
        {
          "start": 911843,
          "end": 911996
        },
        {
          "start": 914465,
          "end": 914577
        },
        {
          "start": 915904,
          "end": 915973
        },
        {
          "start": 917008,
          "end": 918120
        }
      ],
      "cds": {
        "start": 892999,
        "end": 917103
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 892758,
      "end": 919472,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 405502,
      "end": 1405501,
      "genes": [
        {
          "symbol": "PDCD6-AHRR",
          "ensemblId": "ENSG00000288622",
          "biotype": "protein_coding",
          "start": 271670,
          "end": 438291,
          "strand": "+",
          "slug": "pdcd6-ahrr"
        },
        {
          "symbol": "AHRR",
          "ensemblId": "ENSG00000063438",
          "biotype": "protein_coding",
          "start": 320682,
          "end": 438307,
          "strand": "+",
          "slug": "ahrr"
        },
        {
          "symbol": "EXOC3",
          "ensemblId": "ENSG00000180104",
          "biotype": "protein_coding",
          "start": 442522,
          "end": 471939,
          "strand": "+",
          "slug": "exoc3"
        },
        {
          "symbol": "SLC9A3",
          "ensemblId": "ENSG00000066230",
          "biotype": "protein_coding",
          "start": 470456,
          "end": 524450,
          "strand": "-",
          "slug": "slc9a3"
        },
        {
          "symbol": "CEP72",
          "ensemblId": "ENSG00000112877",
          "biotype": "protein_coding",
          "start": 612305,
          "end": 667703,
          "strand": "+",
          "slug": "cep72"
        },
        {
          "symbol": "TPPP",
          "ensemblId": "ENSG00000171368",
          "biotype": "protein_coding",
          "start": 658850,
          "end": 693997,
          "strand": "-",
          "slug": "tppp"
        },
        {
          "symbol": "ZDHHC11B",
          "ensemblId": "ENSG00000206077",
          "biotype": "protein_coding",
          "start": 710355,
          "end": 784729,
          "strand": "-",
          "slug": "zdhhc11b"
        },
        {
          "symbol": "ZDHHC11",
          "ensemblId": "ENSG00000188818",
          "biotype": "protein_coding",
          "start": 795605,
          "end": 858973,
          "strand": "-",
          "slug": "zdhhc11"
        },
        {
          "symbol": "BRD9",
          "ensemblId": "ENSG00000028310",
          "biotype": "protein_coding",
          "start": 850291,
          "end": 892838,
          "strand": "-",
          "slug": "brd9"
        },
        {
          "symbol": "NKD2",
          "ensemblId": "ENSG00000145506",
          "biotype": "protein_coding",
          "start": 1008021,
          "end": 1040630,
          "strand": "+",
          "slug": "nkd2"
        },
        {
          "symbol": "SLC12A7",
          "ensemblId": "ENSG00000113504",
          "biotype": "protein_coding",
          "start": 1050384,
          "end": 1156237,
          "strand": "-",
          "slug": "slc12a7"
        },
        {
          "symbol": "SLC6A19",
          "ensemblId": "ENSG00000174358",
          "biotype": "protein_coding",
          "start": 1201595,
          "end": 1225111,
          "strand": "+",
          "slug": "slc6a19"
        },
        {
          "symbol": "SLC6A18",
          "ensemblId": "ENSG00000164363",
          "biotype": "protein_coding",
          "start": 1225381,
          "end": 1246189,
          "strand": "+",
          "slug": "slc6a18"
        },
        {
          "symbol": "TERT",
          "ensemblId": "ENSG00000164362",
          "biotype": "protein_coding",
          "start": 1253147,
          "end": 1295086,
          "strand": "-",
          "slug": "tert"
        },
        {
          "symbol": "CLPTM1L",
          "ensemblId": "ENSG00000049656",
          "biotype": "protein_coding",
          "start": 1316821,
          "end": 1345100,
          "strand": "-",
          "slug": "clptm1l"
        },
        {
          "symbol": "SLC6A3",
          "ensemblId": "ENSG00000142319",
          "biotype": "protein_coding",
          "start": 1392794,
          "end": 1445514,
          "strand": "-",
          "slug": "slc6a3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "female-infertility",
        "name": "Γυναικεία υπογονιμότητα",
        "diseases": [
          {
            "mondoId": "MONDO:0014769",
            "name": "κληρονομική διαταραχή της ωρίμανσης των ωοκυττάρων",
            "genes": 17,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/female-infertility"
      },
      {
        "slug": "mosaic-variegated-aneuploidy-syndrome",
        "name": "Σύνδρομο Μωσαϊκής Ποικίλης Ανευπλοειδίας",
        "diseases": [
          {
            "mondoId": "MONDO:0000141",
            "name": "Σύνδρομο μωσαϊκής ποικίλης ανευπλοειδίας",
            "genes": 5,
            "inheritance": "autosomal-recessive",
            "description": "Μωσαϊκά κέρδη και απώλειες ολόκληρων χρωμοσωμάτων, με περιορισμό της ανάπτυξης, μικροκεφαλία και αυξημένο κίνδυνο ραβδομυοσαρκώματος, όγκου Wilms και λευχαιμίας.",
            "management": "Παρακολούθηση για καρκίνο στην παιδική ηλικία για τα πάσχοντα παιδιά· οι φορείς δεν αναμένεται να έχουν επιπτώσεις στην υγεία.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/mosaic-variegated-aneuploidy-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-mass",
        "name": "Abdominal mass",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abdominal-mass"
      },
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "abnormal-aortic-morphology",
        "name": "Abnormal aortic morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-aortic-morphology"
      },
      {
        "slug": "abnormal-cardiovascular-system-morphology",
        "name": "Abnormal cardiovascular system morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology"
      },
      {
        "slug": "ectopic-kidney",
        "name": "Abnormal kidney location",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ectopic-kidney"
      },
      {
        "slug": "abnormal-lung-lobation",
        "name": "Abnormal lung lobation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-lung-lobation"
      },
      {
        "slug": "abnormal-skin-pigmentation",
        "name": "Abnormal skin pigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-skin-pigmentation"
      },
      {
        "slug": "neoplasm",
        "name": "Abnormal tissue mass",
        "systems": [],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neoplasm"
      },
      {
        "slug": "abnormal-uterus-morphology",
        "name": "Abnormal uterus morphology",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-uterus-morphology"
      },
      {
        "slug": "abnormality-of-immune-system-physiology",
        "name": "Abnormality of immune system physiology",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-immune-system-physiology"
      },
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "systems": [],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      },
      {
        "slug": "abnormality-of-the-skeletal-system",
        "name": "Abnormality of the skeletal system",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-skeletal-system"
      },
      {
        "slug": "abnormal-skull-morphology",
        "name": "Abnormality of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-skull-morphology"
      },
      {
        "slug": "abnormality-of-the-upper-limb",
        "name": "Abnormality of the upper limb",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-upper-limb"
      },
      {
        "slug": "abnormality-of-vision",
        "name": "Abnormality of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-vision"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "duodenal-atresia",
        "name": "Absence or narrowing of first part of small bowel",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/duodenal-atresia"
      },
      {
        "slug": "aniridia",
        "name": "Absent iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aniridia"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-cerebellum",
        "name": "Absent/small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-cerebellum"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "acute-lymphoblastic-leukemia",
        "name": "Acute lymphoblastic leukemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-lymphoblastic-leukemia"
      },
      {
        "slug": "ambiguous-genitalia",
        "name": "Ambiguous external genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ambiguous-genitalia"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "aortic-regurgitation",
        "name": "Aortic regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aortic-regurgitation"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-corpus-callosum",
        "name": "Aplasia/Hypoplasia of the corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "arthrogryposis-multiplex-congenita",
        "name": "Arthrogryposis multiplex congenita",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita"
      },
      {
        "slug": "hemihypertrophy",
        "name": "Asymmetric overgrowth",
        "systems": [
          "abnormality-of-limbs",
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemihypertrophy"
      },
      {
        "slug": "convex-nasal-ridge",
        "name": "Beaked nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/convex-nasal-ridge"
      },
      {
        "slug": "macroscopic-hematuria",
        "name": "Bloody urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macroscopic-hematuria"
      },
      {
        "slug": "osteolysis",
        "name": "Breakdown of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteolysis"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "colon-cancer",
        "name": "Colon cancer",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/colon-cancer"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "dandy-walker-malformation",
        "name": "Dandy-Walker malformation",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dandy-walker-malformation"
      },
      {
        "slug": "deeply-set-eye",
        "name": "Deeply set eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/deeply-set-eye"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "duplication-of-renal-pelvis",
        "name": "Duplication of renal pelvis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/duplication-of-renal-pelvis"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "female-infertility",
        "name": "Female infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/female-infertility"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "few-cafe-au-lait-spots",
        "name": "Few cafe-au-lait spots",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/few-cafe-au-lait-spots"
      },
      {
        "slug": "depressed-nasal-ridge",
        "name": "Flat nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depressed-nasal-ridge"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "intestinal-polyposis",
        "name": "Growths in inner lining of intestine",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intestinal-polyposis"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hypercalcemia",
        "name": "High blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypercalcemia"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "holoprosencephaly",
        "name": "Holoprosencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/holoprosencephaly"
      },
      {
        "slug": "horseshoe-kidney",
        "name": "Horseshoe kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/horseshoe-kidney"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "increased-nuchal-translucency",
        "name": "Increased nuchal translucency",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-nuchal-translucency"
      },
      {
        "slug": "polycythemia",
        "name": "Increased red blood cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polycythemia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "neoplasm-of-the-liver",
        "name": "Liver cancer",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-liver"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "neoplasm-of-the-lung",
        "name": "Lung cancer",
        "systems": [
          "abnormality-of-the-respiratory-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-lung"
      },
      {
        "slug": "malaise",
        "name": "Malaise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/malaise"
      },
      {
        "slug": "metaphase-i-oocyte-maturation-arrest",
        "name": "Metaphase I oocyte maturation arrest",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/metaphase-i-oocyte-maturation-arrest"
      },
      {
        "slug": "multicystic-kidney-dysplasia",
        "name": "Multicystic kidney dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/multicystic-kidney-dysplasia"
      },
      {
        "slug": "multiple-cafe-au-lait-spots",
        "name": "Multiple birthmarks",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/multiple-cafe-au-lait-spots"
      },
      {
        "slug": "muscular-dystrophy",
        "name": "Muscular dystrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscular-dystrophy"
      },
      {
        "slug": "myelodysplasia",
        "name": "Myelodysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myelodysplasia"
      },
      {
        "slug": "coarctation-of-aorta",
        "name": "Narrowing of aorta",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coarctation-of-aorta"
      },
      {
        "slug": "subvalvular-aortic-stenosis",
        "name": "Narrowing of blood vessel below aortic heart valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/subvalvular-aortic-stenosis"
      },
      {
        "slug": "nephroblastoma",
        "name": "Nephroblastoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nephroblastoma"
      },
      {
        "slug": "premature-chromatid-separation",
        "name": "Premature chromatid separation",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/premature-chromatid-separation"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "reduced-von-willebrand-factor-activity",
        "name": "Reduced von Willebrand factor activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-von-willebrand-factor-activity"
      },
      {
        "slug": "rhabdomyosarcoma",
        "name": "Rhabdomyosarcoma",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rhabdomyosarcoma"
      },
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "sloping-forehead",
        "name": "Sloping forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sloping-forehead"
      },
      {
        "slug": "microscopic-hematuria",
        "name": "Small amount of blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microscopic-hematuria"
      },
      {
        "slug": "stomach-cancer",
        "name": "Stomach cancer",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stomach-cancer"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      },
      {
        "slug": "triangular-face",
        "name": "Triangular face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/triangular-face"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "vaginal-neoplasm",
        "name": "Vaginal tumor",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vaginal-neoplasm"
      },
      {
        "slug": "varicocele",
        "name": "Varicocele",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/varicocele"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/weight-loss"
      },
      {
        "slug": "wide-nose",
        "name": "Wide nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wide-nose"
      },
      {
        "slug": "zygotic-cleavage-failure",
        "name": "Zygotic cleavage failure",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/zygotic-cleavage-failure"
      }
    ],
    "related": [
      {
        "slug": "btg4",
        "symbol": "BTG4",
        "name": "BTG anti-proliferation factor 4",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/btg4"
      },
      {
        "slug": "bub1b",
        "symbol": "BUB1B",
        "name": "BUB1 mitotic checkpoint serine/threonine kinase B",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/bub1b"
      },
      {
        "slug": "cdc20",
        "symbol": "CDC20",
        "name": "cell division cycle 20",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cdc20"
      },
      {
        "slug": "cep57",
        "symbol": "CEP57",
        "name": "centrosomal protein 57",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cep57"
      },
      {
        "slug": "kpna7",
        "symbol": "KPNA7",
        "name": "karyopherin subunit alpha 7",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/kpna7"
      },
      {
        "slug": "mos",
        "symbol": "MOS",
        "name": "MOS proto-oncogene, serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/mos"
      },
      {
        "slug": "nlrp2",
        "symbol": "NLRP2",
        "name": "NLR family pyrin domain containing 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/nlrp2"
      },
      {
        "slug": "nlrp5",
        "symbol": "NLRP5",
        "name": "NLR family pyrin domain containing 5",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/nlrp5"
      },
      {
        "slug": "padi6",
        "symbol": "PADI6",
        "name": "peptidyl arginine deiminase 6",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/padi6"
      },
      {
        "slug": "panx1",
        "symbol": "PANX1",
        "name": "pannexin 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/panx1"
      },
      {
        "slug": "patl2",
        "symbol": "PATL2",
        "name": "PAT1 homolog 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/patl2"
      },
      {
        "slug": "rec114",
        "symbol": "REC114",
        "name": "REC114 meiotic recombination protein",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/rec114"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}