{
  "url": "https://dantelabs.com/et/genes/polr1b",
  "gene": {
    "slug": "polr1b",
    "symbol": "POLR1B",
    "name": "RNA polymerase I subunit B",
    "hgnc": "HGNC:20454",
    "summary": null,
    "location": "2q14.1",
    "locusType": "gene with protein product",
    "aliases": [
      "Rpo1-2",
      "FLJ21921",
      "FLJ10816",
      "RPA2",
      "RPA135"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000125630",
    "entrezId": 84172,
    "omim": [
      "602000"
    ],
    "uniprot": [
      "Q9H9Y6"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 112542465,
      "end": 112579818,
      "strand": "+",
      "ensemblTranscript": "ENST00000263331.10",
      "refseqTranscript": "NM_019014.6",
      "ensemblProtein": "ENSP00000263331.5",
      "refseqProtein": "NP_061887.2",
      "exons": [
        {
          "start": 112542465,
          "end": 112542671
        },
        {
          "start": 112547012,
          "end": 112547179
        },
        {
          "start": 112547421,
          "end": 112547567
        },
        {
          "start": 112549267,
          "end": 112549399
        },
        {
          "start": 112550866,
          "end": 112551002
        },
        {
          "start": 112551775,
          "end": 112551998
        },
        {
          "start": 112552645,
          "end": 112552816
        },
        {
          "start": 112557910,
          "end": 112558081
        },
        {
          "start": 112559293,
          "end": 112559574
        },
        {
          "start": 112564366,
          "end": 112564499
        },
        {
          "start": 112567967,
          "end": 112568137
        },
        {
          "start": 112568746,
          "end": 112568902
        },
        {
          "start": 112572562,
          "end": 112572758
        },
        {
          "start": 112573562,
          "end": 112573815
        },
        {
          "start": 112574847,
          "end": 112579818
        }
      ],
      "cds": {
        "start": 112542495,
        "end": 112575729
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 113299492,
      "end": 113334635,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 112061142,
      "end": 113061141,
      "genes": [
        {
          "symbol": "TMEM87B",
          "ensemblId": "ENSG00000153214",
          "biotype": "protein_coding",
          "start": 112055202,
          "end": 112119870,
          "strand": "+",
          "slug": "tmem87b"
        },
        {
          "symbol": "FBLN7",
          "ensemblId": "ENSG00000144152",
          "biotype": "protein_coding",
          "start": 112138363,
          "end": 112188218,
          "strand": "+",
          "slug": "fbln7"
        },
        {
          "symbol": "ZC3H8",
          "ensemblId": "ENSG00000144161",
          "biotype": "protein_coding",
          "start": 112211529,
          "end": 112255151,
          "strand": "-",
          "slug": "zc3h8"
        },
        {
          "symbol": "ZC3H6",
          "ensemblId": "ENSG00000188177",
          "biotype": "protein_coding",
          "start": 112275565,
          "end": 112340059,
          "strand": "+",
          "slug": "zc3h6"
        },
        {
          "symbol": "RGPD8",
          "ensemblId": "ENSG00000169629",
          "biotype": "protein_coding",
          "start": 112368369,
          "end": 112434488,
          "strand": "-",
          "slug": "rgpd8"
        },
        {
          "symbol": "TTL",
          "ensemblId": "ENSG00000114999",
          "biotype": "protein_coding",
          "start": 112482112,
          "end": 112541739,
          "strand": "+",
          "slug": "ttl"
        },
        {
          "symbol": "CHCHD5",
          "ensemblId": "ENSG00000125611",
          "biotype": "protein_coding",
          "start": 112584240,
          "end": 112589275,
          "strand": "+",
          "slug": "chchd5"
        },
        {
          "symbol": "SLC20A1",
          "ensemblId": "ENSG00000144136",
          "biotype": "protein_coding",
          "start": 112645853,
          "end": 112664727,
          "strand": "+",
          "slug": "slc20a1"
        },
        {
          "symbol": "NT5DC4",
          "ensemblId": "ENSG00000144130",
          "biotype": "protein_coding",
          "start": 112721020,
          "end": 112742879,
          "strand": "+",
          "slug": "nt5dc4"
        },
        {
          "symbol": "CKAP2L",
          "ensemblId": "ENSG00000169607",
          "biotype": "protein_coding",
          "start": 112736349,
          "end": 112764664,
          "strand": "-",
          "slug": "ckap2l"
        },
        {
          "symbol": "IL1A",
          "ensemblId": "ENSG00000115008",
          "biotype": "protein_coding",
          "start": 112773916,
          "end": 112784500,
          "strand": "-",
          "slug": "il1a"
        },
        {
          "symbol": "IL1B",
          "ensemblId": "ENSG00000125538",
          "biotype": "protein_coding",
          "start": 112829750,
          "end": 112864235,
          "strand": "-",
          "slug": "il1b"
        },
        {
          "symbol": "IL37",
          "ensemblId": "ENSG00000125571",
          "biotype": "protein_coding",
          "start": 112911160,
          "end": 112918882,
          "strand": "+",
          "slug": "il37"
        },
        {
          "symbol": "IL36G",
          "ensemblId": "ENSG00000136688",
          "biotype": "protein_coding",
          "start": 112973203,
          "end": 112985672,
          "strand": "+",
          "slug": "il36g"
        },
        {
          "symbol": "IL36A",
          "ensemblId": "ENSG00000136694",
          "biotype": "protein_coding",
          "start": 113005459,
          "end": 113008044,
          "strand": "+",
          "slug": "il36a"
        },
        {
          "symbol": "IL36B",
          "ensemblId": "ENSG00000136696",
          "biotype": "protein_coding",
          "start": 113022089,
          "end": 113052867,
          "strand": "-",
          "slug": "il36b"
        },
        {
          "symbol": "IL36RN",
          "ensemblId": "ENSG00000136695",
          "biotype": "protein_coding",
          "start": 113058638,
          "end": 113065382,
          "strand": "+",
          "slug": "il36rn"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "treacher-collins-syndrome",
        "name": "Treacher Collinsi sündroom",
        "diseases": [
          {
            "mondoId": "MONDO:0002457",
            "name": "Treacher Collinsi sündroom",
            "genes": 4,
            "inheritance": null,
            "description": "Näo arengu häire (mandibulofatsiaalne düsostoos), mida põhjustavad muutused geenides TCOF1, POLR1D, POLR1C või POLR1B. Pärandumine on domineeriv või mõnede geenide puhul retsessiivne. Ilmingud varieeruvad suuresti, seetõttu ei tuvastata kergelt haigeid vanemaid sageli.",
            "management": "Selle teadmine aitab hallata kuulmist ja hingamist ning annab teavet haiguse kordumise riski kohta perekonnas nõustamiseks.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/treacher-collins-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "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": "rectovaginal-fistula",
        "name": "Abnormal connection between rectum and vagina",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rectovaginal-fistula"
      },
      {
        "slug": "tracheoesophageal-fistula",
        "name": "Abnormal connection between trachea and esophagus",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tracheoesophageal-fistula"
      },
      {
        "slug": "abnormality-of-the-dentition",
        "name": "Abnormal dentition",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-dentition"
      },
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "abnormal-lacrimal-duct-morphology",
        "name": "Abnormal lacrimal duct morphology",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-lacrimal-duct-morphology"
      },
      {
        "slug": "skeletal-dysplasia",
        "name": "Abnormal skeletal development",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skeletal-dysplasia"
      },
      {
        "slug": "abnormal-dental-enamel-morphology",
        "name": "Abnormal tooth enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-dental-enamel-morphology"
      },
      {
        "slug": "abnormality-of-bone-mineral-density",
        "name": "Abnormality of bone mineral density",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-bone-mineral-density"
      },
      {
        "slug": "abnormal-dental-morphology",
        "name": "Abnormality of dental shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-dental-morphology"
      },
      {
        "slug": "abnormality-of-the-middle-ear",
        "name": "Abnormality of the middle ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-middle-ear"
      },
      {
        "slug": "abnormality-of-the-outer-ear",
        "name": "Abnormality of the outer ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-outer-ear"
      },
      {
        "slug": "abnormality-of-the-vertebral-column",
        "name": "Abnormality of the vertebral column",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-vertebral-column"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "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": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "atresia-of-the-external-auditory-canal",
        "name": "Absent ear canal",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atresia-of-the-external-auditory-canal"
      },
      {
        "slug": "absent-eyelashes",
        "name": "Absent eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-eyelashes"
      },
      {
        "slug": "abnormality-of-the-adrenal-glands",
        "name": "Adrenal abnormalities",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-adrenal-glands"
      },
      {
        "slug": "dental-malocclusion",
        "name": "Bad bite",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dental-malocclusion"
      },
      {
        "slug": "choanal-atresia",
        "name": "Blockage of the rear opening of the nasal cavity",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/choanal-atresia"
      },
      {
        "slug": "branchial-fistula",
        "name": "Branchial fistula",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/branchial-fistula"
      },
      {
        "slug": "brachycephaly",
        "name": "Broad head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brachycephaly"
      },
      {
        "slug": "iris-coloboma",
        "name": "Cat eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/iris-coloboma"
      },
      {
        "slug": "hypoplasia-of-the-zygomatic-bone",
        "name": "Cheekbone underdevelopment",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-zygomatic-bone"
      },
      {
        "slug": "eyelid-coloboma",
        "name": "Cleft eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eyelid-coloboma"
      },
      {
        "slug": "lower-eyelid-coloboma",
        "name": "Cleft lower eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lower-eyelid-coloboma"
      },
      {
        "slug": "tessier-cleft",
        "name": "Cleft of the face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tessier-cleft"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cleft-upper-lip",
        "name": "Cleft upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-upper-lip"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "tooth-agenesis",
        "name": "Decreased number of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tooth-agenesis"
      },
      {
        "slug": "hypoplasia-of-the-maxilla",
        "name": "Decreased size of maxilla",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-maxilla"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "aphasia",
        "name": "Difficulty finding words",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aphasia"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "encephalocele",
        "name": "Encephalocele",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/encephalocele"
      },
      {
        "slug": "blepharospasm",
        "name": "Eyelid spasm",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blepharospasm"
      },
      {
        "slug": "facial-asymmetry",
        "name": "Facial asymmetry",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/facial-asymmetry"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "preauricular-hair-displacement",
        "name": "Hair growing down to cheek",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/preauricular-hair-displacement"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "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": "low-anterior-hairline",
        "name": "Low frontal hairline",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-anterior-hairline"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "multiple-enchondromatosis",
        "name": "Multiple enchondromatosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/multiple-enchondromatosis"
      },
      {
        "slug": "narrow-internal-auditory-canal",
        "name": "Narrow internal auditory canal",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/narrow-internal-auditory-canal"
      },
      {
        "slug": "narrow-mouth",
        "name": "Narrow mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/narrow-mouth"
      },
      {
        "slug": "choanal-stenosis",
        "name": "Narrowing of the rear opening of the nasal cavity",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/choanal-stenosis"
      },
      {
        "slug": "open-bite",
        "name": "Open bite",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/open-bite"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "respiratory-failure-requiring-assisted-ventilation",
        "name": "Respiratory failure requiring assisted ventilation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-failure-requiring-assisted-ventilation"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "glossoptosis",
        "name": "Retraction of the tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/glossoptosis"
      },
      {
        "slug": "short-face",
        "name": "Short face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-face"
      },
      {
        "slug": "preauricular-skin-tag",
        "name": "Skin tag in front of the ear",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/preauricular-skin-tag"
      },
      {
        "slug": "microtia",
        "name": "Small ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microtia"
      },
      {
        "slug": "hypoplasia-of-the-thymus",
        "name": "Small thymus",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-thymus"
      },
      {
        "slug": "thyroid-hypoplasia",
        "name": "Small thyroid gland",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thyroid-hypoplasia"
      },
      {
        "slug": "small-scrotum",
        "name": "Smaller than typical growth of scrotum",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/small-scrotum"
      },
      {
        "slug": "hypoplasia-of-penis",
        "name": "Underdeveloped penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-penis"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "wide-mouth",
        "name": "Wide mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wide-mouth"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "malar-flattening",
        "name": "Zygomatic flattening",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/malar-flattening"
      }
    ],
    "related": [
      {
        "slug": "polr1c",
        "symbol": "POLR1C",
        "name": "RNA polymerase I and III subunit C",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/polr1c"
      },
      {
        "slug": "polr1d",
        "symbol": "POLR1D",
        "name": "RNA polymerase I and III subunit D",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/polr1d"
      },
      {
        "slug": "tcof1",
        "symbol": "TCOF1",
        "name": "treacle ribosome biogenesis factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/tcof1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}