{
  "url": "https://dantelabs.com/it/genes/tmem67",
  "gene": {
    "slug": "tmem67",
    "symbol": "TMEM67",
    "name": "transmembrane protein 67",
    "hgnc": "HGNC:28396",
    "summary": null,
    "location": "8q22.1",
    "locusType": "gene with protein product",
    "aliases": [
      "MGC26979",
      "JBTS6",
      "NPHP11"
    ],
    "previousSymbols": [
      "MKS3"
    ],
    "ensemblId": "ENSG00000164953",
    "entrezId": 91147,
    "omim": [
      "609884"
    ],
    "uniprot": [
      "Q5HYA8"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "8",
      "start": 93754894,
      "end": 93818121,
      "strand": "+",
      "ensemblTranscript": "ENST00000453321.8",
      "refseqTranscript": "NM_153704.6",
      "ensemblProtein": "ENSP00000389998.3",
      "refseqProtein": "NP_714915.3",
      "exons": [
        {
          "start": 93754894,
          "end": 93755137
        },
        {
          "start": 93755778,
          "end": 93755866
        },
        {
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        },
        {
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          "end": 93763941
        },
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          "end": 93765475
        },
        {
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        },
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        },
        {
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          "end": 93780747
        },
        {
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          "end": 93780982
        },
        {
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          "end": 93781744
        },
        {
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        },
        {
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        },
        {
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        },
        {
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          "end": 93787949
        },
        {
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        },
        {
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          "end": 93793296
        },
        {
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          "end": 93795507
        },
        {
          "start": 93795901,
          "end": 93795987
        },
        {
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          "end": 93797233
        },
        {
          "start": 93797331,
          "end": 93797470
        },
        {
          "start": 93799618,
          "end": 93799758
        },
        {
          "start": 93803604,
          "end": 93803684
        },
        {
          "start": 93804762,
          "end": 93804878
        },
        {
          "start": 93808840,
          "end": 93808956
        },
        {
          "start": 93809057,
          "end": 93809161
        },
        {
          "start": 93809785,
          "end": 93809887
        },
        {
          "start": 93815305,
          "end": 93815447
        },
        {
          "start": 93816372,
          "end": 93818121
        }
      ],
      "cds": {
        "start": 93754915,
        "end": 93816452
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "8",
      "start": 94767072,
      "end": 94831462,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 93286508,
      "end": 94286507,
      "genes": [
        {
          "symbol": "CIBAR1",
          "ensemblId": "ENSG00000188343",
          "biotype": "protein_coding",
          "start": 93698561,
          "end": 93732882,
          "strand": "+",
          "slug": "cibar1"
        },
        {
          "symbol": "RBM12B",
          "ensemblId": "ENSG00000183808",
          "biotype": "protein_coding",
          "start": 93728155,
          "end": 93741098,
          "strand": "-",
          "slug": "rbm12b"
        },
        {
          "symbol": "PDP1",
          "ensemblId": "ENSG00000164951",
          "biotype": "protein_coding",
          "start": 93857788,
          "end": 93926068,
          "strand": "+",
          "slug": "pdp1"
        },
        {
          "symbol": "CDH17",
          "ensemblId": "ENSG00000079112",
          "biotype": "protein_coding",
          "start": 94124381,
          "end": 94217303,
          "strand": "-",
          "slug": "cdh17"
        },
        {
          "symbol": "GEM",
          "ensemblId": "ENSG00000164949",
          "biotype": "protein_coding",
          "start": 94249249,
          "end": 94262461,
          "strand": "-",
          "slug": "gem"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "joubert-syndrome-and-related-disorders",
        "name": "Sindrome di Joubert e disturbi correlati",
        "diseases": [
          {
            "mondoId": "MONDO:0015369",
            "name": "Sindrome di Joubert e disturbi correlati",
            "genes": 12,
            "inheritance": "autosomal-recessive",
            "description": "La sindrome di Joubert (JS) e i disturbi correlati (JSRD) costituiscono un gruppo di sindromi con ritardo dello sviluppo e anomalie congenite multiple in cui la caratteristica obbligatoria è il \"segno del dente molare\" (MTS), una complessa malformazione del mesencefalo e del romboencefalo identificabile tramite diagnostica per immagini del cervello. L'MTS è caratterizzato da ipodisplasia del verme cerebellare, ispessimento e disorientamento dei peduncoli cerebellari superiori e da una fossa interpeduncolare anormalmente profonda.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          },
          {
            "mondoId": "MONDO:0018772",
            "name": "Sindrome di Joubert",
            "genes": 37,
            "inheritance": null,
            "description": "Una ciliopatia caratterizzata da una malformazione del cervelletto e del tronco encefalico (il segno del dente molare), con ipotonia muscolare, ritardo dello sviluppo e movimenti oculari anomali, a volte con coinvolgimento renale, epatico od oculare.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/joubert-syndrome-and-related-disorders"
      },
      {
        "slug": "meckel-syndrome",
        "name": "Sindrome di Meckel",
        "diseases": [
          {
            "mondoId": "MONDO:0018921",
            "name": "Sindrome di Meckel",
            "genes": 10,
            "inheritance": "autosomal-recessive",
            "description": "Una malattia genetica rara e letale con anomalie congenite multiple, caratterizzata dalla triade composta da malformazioni cerebrali (principalmente encefalocele occipitale), reni policistici ingrossati e polidattilia, oltre ad anomalie associate che possono includere labiopalatoschisi, anomalie cardiache e genitali, malformazioni del sistema nervoso centrale (SNC), fibrosi epatica e displasia ossea.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/meckel-syndrome"
      },
      {
        "slug": "nephronophthisis-senior-loken-syndrome",
        "name": "Nefronoftisi e sindrome di Senior-Løken",
        "diseases": [
          {
            "mondoId": "MONDO:0019005",
            "name": "Nefronoftisi",
            "genes": 17,
            "inheritance": "autosomal-recessive",
            "description": "Una malattia renale a trasmissione autosomica recessiva, causata da varianti in NPHP1 e in altri geni delle ciglia, in cui le cicatrici tubulointerstiziali progressive portano a insufficienza renale, tipicamente nei primi tre decenni di vita.",
            "management": "Conoscere questa condizione consente un monitoraggio regolare della funzione renale, una tempestiva pianificazione della dialisi o del trapianto e il test di portatore per i familiari.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/nephronophthisis-senior-loken-syndrome"
      },
      {
        "slug": "autosomal-recessive-cerebellar-ataxias",
        "name": "Atassie cerebellari autosomiche recessive (incluse CANVAS e AVED)",
        "diseases": [
          {
            "mondoId": "MONDO:0015244",
            "name": "Atassia cerebellare autosomica recessiva",
            "genes": 57,
            "inheritance": "autosomal-recessive",
            "description": "Un gruppo di atassie a trasmissione recessiva causate da varianti bialleliche in geni come RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 e SYNE1.",
            "management": "L'atassia con deficit di vitamina E (TTPA) è trattabile con integratori di vitamina E; le altre forme sono gestite con fisioterapia e cure sintomatiche, e ai familiari può essere proposto il test di portatore.",
            "evidence": {
              "gencc": [
                "G2P"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/it/conditions/autosomal-recessive-cerebellar-ataxias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-abdomen-morphology",
        "name": "Abdomen abnormality",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-abdomen-morphology"
      },
      {
        "slug": "abducens-palsy",
        "name": "Abducens palsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abducens-palsy"
      },
      {
        "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": "abnormal-cerebral-white-matter-morphology",
        "name": "Abnormal cerebral white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology"
      },
      {
        "slug": "abnormal-chorioretinal-morphology",
        "name": "Abnormal chorioretinal morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-chorioretinal-morphology"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-pattern-of-respiration",
        "name": "Abnormal pattern of respiration",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-pattern-of-respiration"
      },
      {
        "slug": "abnormal-renal-interstitial-morphology",
        "name": "Abnormal renal interstitial morphology",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-renal-interstitial-morphology"
      },
      {
        "slug": "abnormal-long-bone-morphology",
        "name": "Abnormal shape of long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-long-bone-morphology"
      },
      {
        "slug": "skeletal-dysplasia",
        "name": "Abnormal skeletal development",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-dysplasia"
      },
      {
        "slug": "abnormal-urinary-electrolyte-concentration",
        "name": "Abnormal urinary electrolyte concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-urinary-electrolyte-concentration"
      },
      {
        "slug": "abnormal-vertebral-body-morphology",
        "name": "Abnormal vertebral body morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology"
      },
      {
        "slug": "abnormality-of-body-height",
        "name": "Abnormality of body height",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-body-height"
      },
      {
        "slug": "abnormality-of-neuronal-migration",
        "name": "Abnormality of neuronal migration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-neuronal-migration"
      },
      {
        "slug": "abnormal-acetabulum-morphology",
        "name": "Abnormality of the hipbone socket",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-acetabulum-morphology"
      },
      {
        "slug": "abnormality-of-the-hypothalamus-pituitary-axis",
        "name": "Abnormality of the hypothalamus-pituitary axis",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-hypothalamus-pituitary-axis"
      },
      {
        "slug": "abnormality-of-the-liver",
        "name": "Abnormality of the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-liver"
      },
      {
        "slug": "abnormality-of-the-skeletal-system",
        "name": "Abnormality of the skeletal system",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-skeletal-system"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "anophthalmia",
        "name": "Absence of eyeballs",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anophthalmia"
      },
      {
        "slug": "unilateral-renal-agenesis",
        "name": "Absent kidney on one side",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/unilateral-renal-agenesis"
      },
      {
        "slug": "asplenia",
        "name": "Absent spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/asplenia"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-cerebellum",
        "name": "Absent/small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-cerebellum"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-iris",
        "name": "Absent/small iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-iris"
      },
      {
        "slug": "accessory-spleen",
        "name": "Accessory spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/accessory-spleen"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "agitation",
        "name": "Agitation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/agitation"
      },
      {
        "slug": "situs-inversus-totalis",
        "name": "All organs on wrong side of body",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/situs-inversus-totalis"
      },
      {
        "slug": "ambiguous-genitalia",
        "name": "Ambiguous external genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ambiguous-genitalia"
      },
      {
        "slug": "anencephaly",
        "name": "Anencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anencephaly"
      },
      {
        "slug": "vascular-dilatation",
        "name": "Aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/vascular-dilatation"
      },
      {
        "slug": "anterior-hypopituitarism",
        "name": "Anterior hypopituitarism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/anterior-hypopituitarism"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-cerebellar-vermis",
        "name": "Aplasia/Hypoplasia of the cerebellar vermis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-cerebellar-vermis"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-corpus-callosum",
        "name": "Aplasia/Hypoplasia of the corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-tongue",
        "name": "Aplasia/Hypoplasia of the tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-tongue"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "anisocoria",
        "name": "Asymmetric pupil sizes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anisocoria"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "bile-duct-proliferation",
        "name": "Bile duct proliferation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bile-duct-proliferation"
      },
      {
        "slug": "chorioretinal-coloboma",
        "name": "Birth defect that causes a hole in the innermost layer at the back of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chorioretinal-coloboma"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "radial-bowing",
        "name": "Bowing of outer large bone of the forearm",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/radial-bowing"
      },
      {
        "slug": "bowing-of-the-long-bones",
        "name": "Bowing of the long bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bowing-of-the-long-bones"
      },
      {
        "slug": "occipital-encephalocele",
        "name": "Brain tissue sticks out through back of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/occipital-encephalocele"
      },
      {
        "slug": "breathing-dysregulation",
        "name": "Breathing dysregulation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/breathing-dysregulation"
      },
      {
        "slug": "carotid-artery-dilatation",
        "name": "Carotid artery dilatation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/carotid-artery-dilatation"
      },
      {
        "slug": "iris-coloboma",
        "name": "Cat eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/iris-coloboma"
      },
      {
        "slug": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "chronic-kidney-disease",
        "name": "Chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-kidney-disease"
      },
      {
        "slug": "chronic-hepatic-failure",
        "name": "Chronic liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-hepatic-failure"
      },
      {
        "slug": "orofacial-cleft",
        "name": "Cleft of the mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/orofacial-cleft"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "microcornea",
        "name": "Cornea of eye less than 10mm in diameter",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcornea"
      },
      {
        "slug": "cranial-nerve-paralysis",
        "name": "Cranial nerve paralysis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cranial-nerve-paralysis"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "renal-cyst",
        "name": "Cystic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-cyst"
      },
      {
        "slug": "cystic-liver-disease",
        "name": "Cystic liver disease",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cystic-liver-disease"
      },
      {
        "slug": "dandy-walker-malformation",
        "name": "Dandy-Walker malformation",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dandy-walker-malformation"
      },
      {
        "slug": "decreased-response-to-growth-hormone-stimulation-test",
        "name": "Decreased response to growth hormone stimulation test",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-response-to-growth-hormone-stimulation-test"
      },
      {
        "slug": "biparietal-narrowing",
        "name": "Decreased width of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/biparietal-narrowing"
      },
      {
        "slug": "deeply-set-eye",
        "name": "Deeply set eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/deeply-set-eye"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "diffuse-cerebral-atrophy",
        "name": "Diffuse cerebral atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diffuse-cerebral-atrophy"
      },
      {
        "slug": "dilated-fourth-ventricle",
        "name": "Dilated fourth ventricle",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dilated-fourth-ventricle"
      },
      {
        "slug": "ureteral-duplication",
        "name": "Double ureter",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ureteral-duplication"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "foot-polydactyly",
        "name": "Duplication of bones of the toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/foot-polydactyly"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "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": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "elongated-superior-cerebellar-peduncle",
        "name": "Elongated superior cerebellar peduncle",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/elongated-superior-cerebellar-peduncle"
      },
      {
        "slug": "encephalocele",
        "name": "Encephalocele",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/encephalocele"
      },
      {
        "slug": "aganglionic-megacolon",
        "name": "Enlarged colon lacking nerve cells",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aganglionic-megacolon"
      },
      {
        "slug": "enlarged-fossa-interpeduncularis",
        "name": "Enlarged fossa interpeduncularis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/enlarged-fossa-interpeduncularis"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "esophageal-varix",
        "name": "Enlarged vein in esophagus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/esophageal-varix"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "episodic-tachypnea",
        "name": "Episodic tachypnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/episodic-tachypnea"
      },
      {
        "slug": "congenital-hepatic-fibrosis",
        "name": "Excessive buildup of connective tissue and scarring of liver at birth",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/congenital-hepatic-fibrosis"
      },
      {
        "slug": "hand-polydactyly",
        "name": "Extra finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hand-polydactyly"
      },
      {
        "slug": "postaxial-hand-polydactyly",
        "name": "Extra little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/postaxial-hand-polydactyly"
      },
      {
        "slug": "preaxial-hand-polydactyly",
        "name": "Extra thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/preaxial-hand-polydactyly"
      },
      {
        "slug": "postaxial-foot-polydactyly",
        "name": "Extra toe attached near the little toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/postaxial-foot-polydactyly"
      },
      {
        "slug": "polydipsia",
        "name": "Extreme thirst",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polydipsia"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "depressed-nasal-ridge",
        "name": "Flat nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-ridge"
      },
      {
        "slug": "full-cheeks",
        "name": "Full cheeks",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/full-cheeks"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "furrowed-tongue",
        "name": "Grooved tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/furrowed-tongue"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "sclerocornea",
        "name": "Hardening of skin and connective tissue",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sclerocornea"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "increased-total-bilirubin",
        "name": "High bili total",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-total-bilirubin"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "highly-arched-eyebrow",
        "name": "Highly arched eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/highly-arched-eyebrow"
      },
      {
        "slug": "hyperechogenic-kidneys",
        "name": "Hyperechogenic kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperechogenic-kidneys"
      },
      {
        "slug": "hypopituitarism",
        "name": "Hypopituitarism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypopituitarism"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "thickened-calvaria",
        "name": "Increased thickness of skull cap",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thickened-calvaria"
      },
      {
        "slug": "polyuria",
        "name": "Increased urine output",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/polyuria"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "intrahepatic-bile-duct-dilatation",
        "name": "Intrahepatic bile duct dilatation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intrahepatic-bile-duct-dilatation"
      },
      {
        "slug": "intrahepatic-biliary-atresia",
        "name": "Intrahepatic biliary atresia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intrahepatic-biliary-atresia"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/moderate-intellectual-disability"
      },
      {
        "slug": "nephropathy",
        "name": "Kidney damage",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nephropathy"
      },
      {
        "slug": "renal-atrophy",
        "name": "Kidney degeneration",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-atrophy"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "neoplasm-of-the-liver",
        "name": "Liver cancer",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-liver"
      },
      {
        "slug": "lobar-holoprosencephaly",
        "name": "Lobar holoprosencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lobar-holoprosencephaly"
      },
      {
        "slug": "long-face",
        "name": "Long face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/long-face"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "pituitary-hypothyroidism",
        "name": "Low thyroid gland function due to abnormal pituitary gland",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/pituitary-hypothyroidism"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "male-pseudohermaphroditism",
        "name": "Male pseudohermaphroditism",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/male-pseudohermaphroditism"
      },
      {
        "slug": "malformation-of-the-hepatic-ductal-plate",
        "name": "Malformation of the hepatic ductal plate",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/malformation-of-the-hepatic-ductal-plate"
      },
      {
        "slug": "molar-tooth-sign-on-mri",
        "name": "Molar tooth sign on MRI",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/molar-tooth-sign-on-mri"
      },
      {
        "slug": "polymicrogyria",
        "name": "More grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polymicrogyria"
      },
      {
        "slug": "polydactyly",
        "name": "More than five fingers or toes on hands or feet",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/polydactyly"
      },
      {
        "slug": "multicystic-kidney-dysplasia",
        "name": "Multicystic kidney dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/multicystic-kidney-dysplasia"
      },
      {
        "slug": "multiple-small-medullary-renal-cysts",
        "name": "Multiple small medullary renal cysts",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/multiple-small-medullary-renal-cysts"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "nephronophthisis",
        "name": "Nephronophthisis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nephronophthisis"
      },
      {
        "slug": "coloboma",
        "name": "Notched pupil",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coloboma"
      },
      {
        "slug": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "slug": "oculomotor-apraxia",
        "name": "Oculomotor apraxia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/oculomotor-apraxia"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-disc-coloboma",
        "name": "Optic disc coloboma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-disc-coloboma"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "exotropia",
        "name": "Outward facing eye ball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/exotropia"
      },
      {
        "slug": "pancreatic-cysts",
        "name": "Pancreatic cysts",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancreatic-cysts"
      },
      {
        "slug": "pancreatic-fibrosis",
        "name": "Pancreatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancreatic-fibrosis"
      },
      {
        "slug": "portal-hypertension",
        "name": "Portal hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/portal-hypertension"
      },
      {
        "slug": "prominent-nasal-bridge",
        "name": "Prominent nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prominent-nasal-bridge"
      },
      {
        "slug": "reduced-circulating-growth-hormone-concentration",
        "name": "Reduced circulating growth hormone concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-circulating-growth-hormone-concentration"
      },
      {
        "slug": "reduced-number-of-intrahepatic-bile-ducts",
        "name": "Reduced number of intrahepatic bile ducts",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-number-of-intrahepatic-bile-ducts"
      },
      {
        "slug": "reduced-renal-corticomedullary-differentiation",
        "name": "Reduced renal corticomedullary differentiation",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-renal-corticomedullary-differentiation"
      },
      {
        "slug": "renal-corticomedullary-cysts",
        "name": "Renal corticomedullary cysts",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-corticomedullary-cysts"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "renal-tubular-atrophy",
        "name": "Renal tubular atrophy",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-tubular-atrophy"
      },
      {
        "slug": "motor-stereotypy",
        "name": "Repetitive movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-stereotypy"
      },
      {
        "slug": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "slug": "round-face",
        "name": "Round face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/round-face"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-long-bone",
        "name": "Short long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-long-bone"
      },
      {
        "slug": "short-femoral-neck",
        "name": "Short neck of thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-femoral-neck"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "sloping-forehead",
        "name": "Sloping forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sloping-forehead"
      },
      {
        "slug": "cholestasis",
        "name": "Slowed or blocked flow of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cholestasis"
      },
      {
        "slug": "hypoplasia-of-the-brainstem",
        "name": "Small brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-brainstem"
      },
      {
        "slug": "small-epiphyses",
        "name": "Small end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/small-epiphyses"
      },
      {
        "slug": "renal-hypoplasia",
        "name": "Small kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-hypoplasia"
      },
      {
        "slug": "hypoplastic-ilia",
        "name": "Small wings of the pelvic girdle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-ilia"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "suicidal-ideation",
        "name": "Suicidal ideation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/suicidal-ideation"
      },
      {
        "slug": "talipes",
        "name": "Talipes",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/talipes"
      },
      {
        "slug": "thickened-superior-cerebellar-peduncle",
        "name": "Thickened superior cerebellar peduncle",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thickened-superior-cerebellar-peduncle"
      },
      {
        "slug": "thickening-of-the-tubular-basement-membrane",
        "name": "Thickening of the tubular basement membrane",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thickening-of-the-tubular-basement-membrane"
      },
      {
        "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": "total-ophthalmoplegia",
        "name": "Total ophthalmoplegia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/total-ophthalmoplegia"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "true-hermaphroditism",
        "name": "True hermaphroditism",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/true-hermaphroditism"
      },
      {
        "slug": "tubular-basement-membrane-disintegration",
        "name": "Tubular basement membrane disintegration",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/tubular-basement-membrane-disintegration"
      },
      {
        "slug": "tubular-luminal-dilatation",
        "name": "Tubular luminal dilatation",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tubular-luminal-dilatation"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "urethral-atresia",
        "name": "Urethral atresia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urethral-atresia"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/wide-mouth"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "mks1",
        "symbol": "MKS1",
        "name": "MKS transition zone complex subunit 1",
        "shared": 4,
        "url": "https://dantelabs.com/it/genes/mks1"
      },
      {
        "slug": "tmem231",
        "symbol": "TMEM231",
        "name": "transmembrane protein 231",
        "shared": 4,
        "url": "https://dantelabs.com/it/genes/tmem231"
      },
      {
        "slug": "ahi1",
        "symbol": "AHI1",
        "name": "Abelson helper integration site 1",
        "shared": 3,
        "url": "https://dantelabs.com/it/genes/ahi1"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "name": "coiled-coil and C2 domain containing 2A",
        "shared": 3,
        "url": "https://dantelabs.com/it/genes/cc2d2a"
      },
      {
        "slug": "cep290",
        "symbol": "CEP290",
        "name": "centrosomal protein 290",
        "shared": 3,
        "url": "https://dantelabs.com/it/genes/cep290"
      },
      {
        "slug": "cep41",
        "symbol": "CEP41",
        "name": "centrosomal protein 41",
        "shared": 3,
        "url": "https://dantelabs.com/it/genes/cep41"
      },
      {
        "slug": "cspp1",
        "symbol": "CSPP1",
        "name": "centrosome and spindle pole associated protein 1",
        "shared": 3,
        "url": "https://dantelabs.com/it/genes/cspp1"
      },
      {
        "slug": "kiaa0586",
        "symbol": "KIAA0586",
        "name": "KIAA0586",
        "shared": 3,
        "url": "https://dantelabs.com/it/genes/kiaa0586"
      },
      {
        "slug": "tmem138",
        "symbol": "TMEM138",
        "name": "transmembrane protein 138",
        "shared": 3,
        "url": "https://dantelabs.com/it/genes/tmem138"
      },
      {
        "slug": "tmem216",
        "symbol": "TMEM216",
        "name": "transmembrane protein 216",
        "shared": 3,
        "url": "https://dantelabs.com/it/genes/tmem216"
      },
      {
        "slug": "tmem237",
        "symbol": "TMEM237",
        "name": "transmembrane protein 237",
        "shared": 3,
        "url": "https://dantelabs.com/it/genes/tmem237"
      },
      {
        "slug": "b9d1",
        "symbol": "B9D1",
        "name": "B9 domain containing 1",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/b9d1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}