{
  "url": "https://dantelabs.com/ro/genes/tcof1",
  "gene": {
    "slug": "tcof1",
    "symbol": "TCOF1",
    "name": "treacle ribosome biogenesis factor 1",
    "hgnc": "HGNC:11654",
    "summary": null,
    "location": "5q32-q33.1",
    "locusType": "gene with protein product",
    "aliases": [
      "treacle",
      "TCS"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000070814",
    "entrezId": 6949,
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      "606847"
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    "uniprot": [
      "Q13428"
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      "strand": "+",
      "ensemblTranscript": "ENST00000643257.2",
      "refseqTranscript": "NM_001371623.1",
      "ensemblProtein": "ENSP00000493815.1",
      "refseqProtein": "NP_001358552.1",
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      ],
      "cds": {
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      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
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      "end": 149779871,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 149878995,
      "end": 150878994,
      "genes": [
        {
          "symbol": "PDE6A",
          "ensemblId": "ENSG00000132915",
          "biotype": "protein_coding",
          "start": 149857953,
          "end": 149945287,
          "strand": "-",
          "slug": "pde6a"
        },
        {
          "symbol": "SLC26A2",
          "ensemblId": "ENSG00000155850",
          "biotype": "protein_coding",
          "start": 149960748,
          "end": 149993455,
          "strand": "+",
          "slug": "slc26a2"
        },
        {
          "symbol": "TIGD6",
          "ensemblId": "ENSG00000164296",
          "biotype": "protein_coding",
          "start": 149992252,
          "end": 150001160,
          "strand": "-",
          "slug": "tigd6"
        },
        {
          "symbol": "HMGXB3",
          "ensemblId": "ENSG00000113716",
          "biotype": "protein_coding",
          "start": 150000046,
          "end": 150053148,
          "strand": "+",
          "slug": "hmgxb3"
        },
        {
          "symbol": "CSF1R",
          "ensemblId": "ENSG00000182578",
          "biotype": "protein_coding",
          "start": 150053291,
          "end": 150113372,
          "strand": "-",
          "slug": "csf1r"
        },
        {
          "symbol": "PDGFRB",
          "ensemblId": "ENSG00000113721",
          "biotype": "protein_coding",
          "start": 150113839,
          "end": 150186363,
          "strand": "-",
          "slug": "pdgfrb"
        },
        {
          "symbol": "CDX1",
          "ensemblId": "ENSG00000113722",
          "biotype": "protein_coding",
          "start": 150166772,
          "end": 150186162,
          "strand": "+",
          "slug": "cdx1"
        },
        {
          "symbol": "SLC6A7",
          "ensemblId": "ENSG00000011083",
          "biotype": "protein_coding",
          "start": 150190041,
          "end": 150222788,
          "strand": "+",
          "slug": "slc6a7"
        },
        {
          "symbol": "CAMK2A",
          "ensemblId": "ENSG00000070808",
          "biotype": "protein_coding",
          "start": 150219491,
          "end": 150290324,
          "strand": "-",
          "slug": "camk2a"
        },
        {
          "symbol": "ARSI",
          "ensemblId": "ENSG00000183876",
          "biotype": "protein_coding",
          "start": 150296343,
          "end": 150339307,
          "strand": "-",
          "slug": "arsi"
        },
        {
          "symbol": "CD74",
          "ensemblId": "ENSG00000019582",
          "biotype": "protein_coding",
          "start": 150401637,
          "end": 150412969,
          "strand": "-",
          "slug": "cd74"
        },
        {
          "symbol": "RPS14",
          "ensemblId": "ENSG00000164587",
          "biotype": "protein_coding",
          "start": 150429756,
          "end": 150449952,
          "strand": "-",
          "slug": "rps14"
        },
        {
          "symbol": "NDST1",
          "ensemblId": "ENSG00000070614",
          "biotype": "protein_coding",
          "start": 150485405,
          "end": 150558211,
          "strand": "+",
          "slug": "ndst1"
        },
        {
          "symbol": "SYNPO",
          "ensemblId": "ENSG00000171992",
          "biotype": "protein_coding",
          "start": 150601080,
          "end": 150659208,
          "strand": "+",
          "slug": "synpo"
        },
        {
          "symbol": "MYOZ3",
          "ensemblId": "ENSG00000164591",
          "biotype": "protein_coding",
          "start": 150660450,
          "end": 150680022,
          "strand": "+",
          "slug": "myoz3"
        },
        {
          "symbol": "RBM22",
          "ensemblId": "ENSG00000086589",
          "biotype": "protein_coding",
          "start": 150690790,
          "end": 150701097,
          "strand": "-",
          "slug": "rbm22"
        },
        {
          "symbol": "DCTN4",
          "ensemblId": "ENSG00000132912",
          "biotype": "protein_coding",
          "start": 150706840,
          "end": 150759095,
          "strand": "-",
          "slug": "dctn4"
        },
        {
          "symbol": "SMIM3",
          "ensemblId": "ENSG00000256235",
          "biotype": "protein_coding",
          "start": 150777883,
          "end": 150796736,
          "strand": "+",
          "slug": "smim3"
        },
        {
          "symbol": "IRGM",
          "ensemblId": "ENSG00000237693",
          "biotype": "protein_coding",
          "start": 150846521,
          "end": 150900736,
          "strand": "+",
          "slug": "irgm"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "treacher-collins-syndrome",
        "name": "Sindromul Treacher Collins",
        "diseases": [
          {
            "mondoId": "MONDO:0002457",
            "name": "Sindromul Treacher Collins",
            "genes": 4,
            "inheritance": null,
            "description": "O afecțiune a dezvoltării feței (disostoză mandibulofacială) cauzată de modificări ale genelor TCOF1, POLR1D, POLR1C sau POLR1B, moștenită dominant sau, pentru unele gene, recesiv; manifestările variază foarte mult, astfel încât părinții cu forme ușoare nu sunt adesea recunoscuți ca atare.",
            "management": "Cunoașterea acestei afecțiuni sprijină gestionarea problemelor de auz și de respirație și oferă informațiile necesare consilierii privind riscul de recurență în familie.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/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": "abnormal-parotid-gland-morphology",
        "name": "Abnormal parotid gland morphology",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/abnormal-parotid-gland-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": "abnormal-heart-morphology",
        "name": "Abnormality of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-heart-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": "abnormal-pinna-morphology",
        "name": "Abnormally shaped ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-pinna-morphology"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "bilateral-microphthalmos",
        "name": "Abnormally small eyeball on both sides",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/bilateral-microphthalmos"
      },
      {
        "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": "obligate",
        "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": "obligate",
        "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": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cleft-soft-palate",
        "name": "Cleft soft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/cleft-soft-palate"
      },
      {
        "slug": "upper-eyelid-coloboma",
        "name": "Cleft upper eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/upper-eyelid-coloboma"
      },
      {
        "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": "coronal-craniosynostosis",
        "name": "Coronal craniosynostosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coronal-craniosynostosis"
      },
      {
        "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": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "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": "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": "occasional",
        "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": "frequent",
        "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": "hypoplasia-of-the-pharynx",
        "name": "Hypoplasia of the pharynx",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-pharynx"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "lambdoidal-craniosynostosis",
        "name": "Lambdoidal craniosynostosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lambdoidal-craniosynostosis"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "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": "lacrimal-duct-stenosis",
        "name": "Narrowing of the tear duct",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/lacrimal-duct-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-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": "sparse-lower-eyelashes",
        "name": "Sparse lower eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/sparse-lower-eyelashes"
      },
      {
        "slug": "squamosal-suture-synostosis",
        "name": "Squamosal suture synostosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/squamosal-suture-synostosis"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "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": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/visual-loss"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/malar-flattening"
      }
    ],
    "related": [
      {
        "slug": "polr1b",
        "symbol": "POLR1B",
        "name": "RNA polymerase I subunit B",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/polr1b"
      },
      {
        "slug": "polr1c",
        "symbol": "POLR1C",
        "name": "RNA polymerase I and III subunit C",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/polr1c"
      },
      {
        "slug": "polr1d",
        "symbol": "POLR1D",
        "name": "RNA polymerase I and III subunit D",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/polr1d"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}