{
  "url": "https://dantelabs.com/fr/genes/polr1c",
  "gene": {
    "slug": "polr1c",
    "symbol": "POLR1C",
    "name": "RNA polymerase I and III subunit C",
    "hgnc": "HGNC:20194",
    "summary": null,
    "location": "6p21.1",
    "locusType": "gene with protein product",
    "aliases": [
      "RPA40",
      "RPA39",
      "RPA5",
      "RPAC1",
      "AC40",
      "RPC40"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000171453",
    "entrezId": 9533,
    "omim": [
      "610060"
    ],
    "uniprot": [
      "O15160"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 43517089,
      "end": 43521513,
      "strand": "+",
      "ensemblTranscript": "ENST00000642195.1",
      "refseqTranscript": "NM_203290.4",
      "ensemblProtein": "ENSP00000496044.1",
      "refseqProtein": "NP_976035.1",
      "exons": [
        {
          "start": 43517089,
          "end": 43517178
        },
        {
          "start": 43517306,
          "end": 43517377
        },
        {
          "start": 43519333,
          "end": 43519440
        },
        {
          "start": 43519706,
          "end": 43519838
        },
        {
          "start": 43520066,
          "end": 43520185
        },
        {
          "start": 43520275,
          "end": 43520427
        },
        {
          "start": 43520625,
          "end": 43520774
        },
        {
          "start": 43520932,
          "end": 43521048
        },
        {
          "start": 43521182,
          "end": 43521513
        }
      ],
      "cds": {
        "start": 43517110,
        "end": 43521300
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 43477440,
      "end": 43497323,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 43019301,
      "end": 44019300,
      "genes": [
        {
          "symbol": "KLHDC3",
          "ensemblId": "ENSG00000124702",
          "biotype": "protein_coding",
          "start": 43014103,
          "end": 43021314,
          "strand": "+",
          "slug": "klhdc3"
        },
        {
          "symbol": "RRP36",
          "ensemblId": "ENSG00000124541",
          "biotype": "protein_coding",
          "start": 43021588,
          "end": 43034156,
          "strand": "+",
          "slug": "rrp36"
        },
        {
          "symbol": "CUL7",
          "ensemblId": "ENSG00000044090",
          "biotype": "protein_coding",
          "start": 43037617,
          "end": 43053943,
          "strand": "-",
          "slug": "cul7"
        },
        {
          "symbol": "KLC4",
          "ensemblId": "ENSG00000137171",
          "biotype": "protein_coding",
          "start": 43040777,
          "end": 43075099,
          "strand": "+",
          "slug": "klc4"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288564",
          "biotype": "protein_coding",
          "start": 43051066,
          "end": 43058185,
          "strand": "-"
        },
        {
          "symbol": "MRPL2",
          "ensemblId": "ENSG00000112651",
          "biotype": "protein_coding",
          "start": 43054029,
          "end": 43059464,
          "strand": "-",
          "slug": "mrpl2"
        },
        {
          "symbol": "PTK7",
          "ensemblId": "ENSG00000112655",
          "biotype": "protein_coding",
          "start": 43076256,
          "end": 43161719,
          "strand": "+",
          "slug": "ptk7"
        },
        {
          "symbol": "SRF",
          "ensemblId": "ENSG00000112658",
          "biotype": "protein_coding",
          "start": 43170910,
          "end": 43181506,
          "strand": "+",
          "slug": "srf"
        },
        {
          "symbol": "CUL9",
          "ensemblId": "ENSG00000112659",
          "biotype": "protein_coding",
          "start": 43182166,
          "end": 43224587,
          "strand": "+",
          "slug": "cul9"
        },
        {
          "symbol": "DNPH1",
          "ensemblId": "ENSG00000112667",
          "biotype": "protein_coding",
          "start": 43225629,
          "end": 43229490,
          "strand": "-",
          "slug": "dnph1"
        },
        {
          "symbol": "TTBK1",
          "ensemblId": "ENSG00000146216",
          "biotype": "protein_coding",
          "start": 43243481,
          "end": 43288258,
          "strand": "+",
          "slug": "ttbk1"
        },
        {
          "symbol": "SLC22A7",
          "ensemblId": "ENSG00000137204",
          "biotype": "protein_coding",
          "start": 43295694,
          "end": 43305543,
          "strand": "+",
          "slug": "slc22a7"
        },
        {
          "symbol": "CRIP3",
          "ensemblId": "ENSG00000146215",
          "biotype": "protein_coding",
          "start": 43299710,
          "end": 43308878,
          "strand": "-",
          "slug": "crip3"
        },
        {
          "symbol": "ZNF318",
          "ensemblId": "ENSG00000171467",
          "biotype": "protein_coding",
          "start": 43307134,
          "end": 43369687,
          "strand": "-",
          "slug": "znf318"
        },
        {
          "symbol": "ABCC10",
          "ensemblId": "ENSG00000124574",
          "biotype": "protein_coding",
          "start": 43427366,
          "end": 43451783,
          "strand": "+",
          "slug": "abcc10"
        },
        {
          "symbol": "DLK2",
          "ensemblId": "ENSG00000171462",
          "biotype": "protein_coding",
          "start": 43450351,
          "end": 43456632,
          "strand": "-",
          "slug": "dlk2"
        },
        {
          "symbol": "TJAP1",
          "ensemblId": "ENSG00000137221",
          "biotype": "protein_coding",
          "start": 43477523,
          "end": 43506562,
          "strand": "+",
          "slug": "tjap1"
        },
        {
          "symbol": "LRRC73",
          "ensemblId": "ENSG00000204052",
          "biotype": "protein_coding",
          "start": 43506062,
          "end": 43510388,
          "strand": "-",
          "slug": "lrrc73"
        },
        {
          "symbol": "YIPF3",
          "ensemblId": "ENSG00000137207",
          "biotype": "protein_coding",
          "start": 43511200,
          "end": 43516985,
          "strand": "-",
          "slug": "yipf3"
        },
        {
          "symbol": "XPO5",
          "ensemblId": "ENSG00000124571",
          "biotype": "protein_coding",
          "start": 43522334,
          "end": 43576091,
          "strand": "-",
          "slug": "xpo5"
        },
        {
          "symbol": "POLH",
          "ensemblId": "ENSG00000170734",
          "biotype": "protein_coding",
          "start": 43575537,
          "end": 43628361,
          "strand": "+",
          "slug": "polh"
        },
        {
          "symbol": "GTPBP2",
          "ensemblId": "ENSG00000172432",
          "biotype": "protein_coding",
          "start": 43605316,
          "end": 43629291,
          "strand": "-",
          "slug": "gtpbp2"
        },
        {
          "symbol": "MAD2L1BP",
          "ensemblId": "ENSG00000124688",
          "biotype": "protein_coding",
          "start": 43629494,
          "end": 43640960,
          "strand": "+",
          "slug": "mad2l1bp"
        },
        {
          "symbol": "RSPH9",
          "ensemblId": "ENSG00000172426",
          "biotype": "protein_coding",
          "start": 43644229,
          "end": 43674358,
          "strand": "+",
          "slug": "rsph9"
        },
        {
          "symbol": "MRPS18A",
          "ensemblId": "ENSG00000096080",
          "biotype": "protein_coding",
          "start": 43669978,
          "end": 43687954,
          "strand": "-",
          "slug": "mrps18a"
        },
        {
          "symbol": "VEGFA",
          "ensemblId": "ENSG00000112715",
          "biotype": "protein_coding",
          "start": 43770184,
          "end": 43786487,
          "strand": "+",
          "slug": "vegfa"
        },
        {
          "symbol": "LINC03040",
          "ensemblId": "ENSG00000181577",
          "biotype": "protein_coding",
          "start": 44000580,
          "end": 44007830,
          "strand": "+",
          "slug": "linc03040"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies",
        "name": "Maladie de Pelizaeus-Merzbacher et leucodystrophies hypomyélinisantes",
        "diseases": [
          {
            "mondoId": "MONDO:0700282",
            "name": "Leucodystrophie (4H) liée à POLR3",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": "Des modifications de POLR3A, POLR3B, POLR1C ou POLR3K provoquent une hypomyélinisation avec des troubles de l'équilibre et de la coordination, souvent accompagnés d'anomalies dentaires et d'un retard pubertaire (hypomyélinisation, hypodontie et hypogonadisme hypogonadotrope).",
            "management": "Le diagnostic permet de surveiller le développement dentaire et la puberté, et un traitement hormonal si nécessaire.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies"
      },
      {
        "slug": "polr1c-related-disorder",
        "name": "Affection liée à POLR1C",
        "diseases": [
          {
            "mondoId": "MONDO:0700278",
            "name": "Affection liée à POLR1C",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Causée par des modifications des deux copies de POLR1C, une sous-unité commune aux ARN polymérases I et III, qui fabriquent les ARN ribosomiques et d'autres ARN essentiels. Selon les modifications, elle produit soit une affection craniofaciale (syndrome de Treacher Collins), soit une leucodystrophie 4H.",
            "management": "Le syndrome de Treacher Collins est pris en charge par une équipe craniofaciale assurant les soins des voies respiratoires, de l'alimentation, de l'audition et la prise en charge chirurgicale. La leucodystrophie est prise en charge par des soins neurologiques, dentaires et endocriniens. Les deux parents d'un enfant atteint sont généralement porteurs, de sorte que chaque enfant supplémentaire a 1 chance sur 4 d'être atteint ; un conseil génétique et un test de porteur pour les membres de la famille sont disponibles.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/polr1c-related-disorder"
      },
      {
        "slug": "treacher-collins-syndrome",
        "name": "Syndrome de Treacher Collins",
        "diseases": [
          {
            "mondoId": "MONDO:0002457",
            "name": "Syndrome de Treacher Collins",
            "genes": 4,
            "inheritance": null,
            "description": "Une anomalie du développement facial (dysostose mandibulofaciale) causée par des variants de TCOF1, POLR1D, POLR1C ou POLR1B, transmise de façon dominante ou, pour certains gènes, récessive ; les manifestations varient beaucoup, si bien que des parents légèrement atteints passent souvent inaperçus.",
            "management": "Le connaître aide à assurer le suivi de l'audition et de la respiration et éclaire le conseil génétique sur le risque de récurrence au sein d'une famille.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/treacher-collins-syndrome"
      },
      {
        "slug": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Maladies neurodégénératives héréditaires",
        "diseases": [
          {
            "mondoId": "MONDO:0024237",
            "name": "Maladie neurodégénérative liée à KIF5A",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Causée par des modifications d'une copie du gène KIF5A, qui code une protéine motrice dotée d'une queue de liaison à sa cargaison. Différents types de modifications entraînent différentes affections : la paraplégie spastique héréditaire de type 10, une forme axonale de la maladie de Charcot-Marie-Tooth et la sclérose latérale amyotrophique (SLA).",
            "management": "La prise en charge est symptomatique et dépend de la forme clinique ; elle comprend la kinésithérapie, des médicaments contre la spasticité et un suivi pluridisciplinaire de la SLA. Chaque enfant d'une personne atteinte a une chance sur 2 d'hériter de la modification ; le conseil génétique aide les familles à comprendre ce risque.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/inherited-neurodegenerative-disorders-selected-genes"
      },
      {
        "slug": "leukodystrophy",
        "name": "Autres leucodystrophies héréditaires",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Leucodystrophie (autres types et types non précisés)",
            "genes": 80,
            "inheritance": null,
            "description": "Maladies héréditaires qui altèrent ou empêchent la formation normale de la myéline, la substance blanche du cerveau et de la moelle épinière. Selon le gène concerné, les différents types suivent une hérédité autosomique récessive, autosomique dominante ou liée à l'X.",
            "management": "Connaître la cause génétique précise peut mettre fin à une recherche diagnostique, guider les soins de soutien et la surveillance, indiquer s'il existe un traitement spécifique et permettre le dépistage des apparentés.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/leukodystrophy"
      }
    ],
    "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": "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": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "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": "obligate",
        "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": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "cns-hypomyelination",
        "name": "CNS hypomyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cns-hypomyelination"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "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": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "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": "very-frequent",
        "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": "hypodontia",
        "name": "Failure of development of between one and six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypodontia"
      },
      {
        "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": "very-frequent",
        "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": "hypergonadotropic-hypogonadism",
        "name": "Hypergonadotropic hypogonadism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypergonadotropic-hypogonadism"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "leukodystrophy",
        "name": "Leukodystrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/leukodystrophy"
      },
      {
        "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": "mandibulofacial-dysostosis",
        "name": "Mandibulofacial dysostosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/mandibulofacial-dysostosis"
      },
      {
        "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": "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": "obligate",
        "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": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "hypoplasia-of-penis",
        "name": "Underdeveloped penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-penis"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "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": "polr3a",
        "symbol": "POLR3A",
        "name": "RNA polymerase III subunit A",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/polr3a"
      },
      {
        "slug": "polr3b",
        "symbol": "POLR3B",
        "name": "RNA polymerase III subunit B",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/polr3b"
      },
      {
        "slug": "polr3k",
        "symbol": "POLR3K",
        "name": "RNA polymerase III subunit K",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/polr3k"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/aars1"
      },
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/aars2"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/abcd1"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "name": "alkaline ceramidase 3",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/acer3"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/adar"
      },
      {
        "slug": "aimp1",
        "symbol": "AIMP1",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/aimp1"
      },
      {
        "slug": "aimp2",
        "symbol": "AIMP2",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/aimp2"
      },
      {
        "slug": "aldh3a2",
        "symbol": "ALDH3A2",
        "name": "aldehyde dehydrogenase 3 family member A2",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/aldh3a2"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/arsa"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}