{
  "url": "https://dantelabs.com/lt/genes/rnu12",
  "gene": {
    "slug": "rnu12",
    "symbol": "RNU12",
    "name": "RNA, U12 small nuclear",
    "hgnc": "HGNC:19380",
    "summary": null,
    "location": "22q13.2",
    "locusType": "RNA, small nuclear",
    "aliases": [
      "RNU12-1"
    ],
    "previousSymbols": [
      "RNU12P"
    ],
    "ensemblId": "ENSG00000276027",
    "entrezId": 267010,
    "omim": [
      "620204"
    ],
    "uniprot": [],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "22",
      "start": 42615244,
      "end": 42615393,
      "strand": "+",
      "ensemblTranscript": "ENST00000362512.1",
      "refseqTranscript": "NR_029422.2",
      "exons": [
        {
          "start": 42615244,
          "end": 42615393
        }
      ]
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "22",
      "start": 43011250,
      "end": 43011913,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 42115319,
      "end": 43115318,
      "genes": [
        {
          "symbol": "CYP2D6",
          "ensemblId": "ENSG00000100197",
          "biotype": "protein_coding",
          "start": 42120962,
          "end": 42131727,
          "strand": "-",
          "slug": "cyp2d6"
        },
        {
          "symbol": "CYP2D7",
          "ensemblId": "ENSG00000205702",
          "biotype": "protein_coding",
          "start": 42140203,
          "end": 42149500,
          "strand": "-",
          "slug": "cyp2d7"
        },
        {
          "symbol": "TCF20",
          "ensemblId": "ENSG00000100207",
          "biotype": "protein_coding",
          "start": 42160013,
          "end": 42343616,
          "strand": "-",
          "slug": "tcf20"
        },
        {
          "symbol": "NFAM1",
          "ensemblId": "ENSG00000235568",
          "biotype": "protein_coding",
          "start": 42380407,
          "end": 42432425,
          "strand": "-",
          "slug": "nfam1"
        },
        {
          "symbol": "RRP7A",
          "ensemblId": "ENSG00000189306",
          "biotype": "protein_coding",
          "start": 42507982,
          "end": 42519853,
          "strand": "-",
          "slug": "rrp7a"
        },
        {
          "symbol": "SERHL2",
          "ensemblId": "ENSG00000183569",
          "biotype": "protein_coding",
          "start": 42553617,
          "end": 42574387,
          "strand": "+",
          "slug": "serhl2"
        },
        {
          "symbol": "POLDIP3",
          "ensemblId": "ENSG00000100227",
          "biotype": "protein_coding",
          "start": 42582750,
          "end": 42614962,
          "strand": "-",
          "slug": "poldip3"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000289517",
          "biotype": "protein_coding",
          "start": 42583836,
          "end": 42627688,
          "strand": "-"
        },
        {
          "symbol": "CYB5R3",
          "ensemblId": "ENSG00000100243",
          "biotype": "protein_coding",
          "start": 42615730,
          "end": 42720870,
          "strand": "-",
          "slug": "cyb5r3"
        },
        {
          "symbol": "ATP5MGL",
          "ensemblId": "ENSG00000249222",
          "biotype": "protein_coding",
          "start": 42639803,
          "end": 42640601,
          "strand": "-",
          "slug": "atp5mgl"
        },
        {
          "symbol": "A4GALT",
          "ensemblId": "ENSG00000128274",
          "biotype": "protein_coding",
          "start": 42691010,
          "end": 42721298,
          "strand": "-",
          "slug": "a4galt"
        },
        {
          "symbol": "ARFGAP3",
          "ensemblId": "ENSG00000242247",
          "biotype": "protein_coding",
          "start": 42796502,
          "end": 42858106,
          "strand": "-",
          "slug": "arfgap3"
        },
        {
          "symbol": "PACSIN2",
          "ensemblId": "ENSG00000100266",
          "biotype": "protein_coding",
          "start": 42835412,
          "end": 43015185,
          "strand": "-",
          "slug": "pacsin2"
        },
        {
          "symbol": "TTLL1",
          "ensemblId": "ENSG00000100271",
          "biotype": "protein_coding",
          "start": 43039447,
          "end": 43089430,
          "strand": "-",
          "slug": "ttll1"
        },
        {
          "symbol": "BIK",
          "ensemblId": "ENSG00000100290",
          "biotype": "protein_coding",
          "start": 43110742,
          "end": 43129712,
          "strand": "+",
          "slug": "bik"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "syndromic-craniosynostosis",
        "name": "Sindrominė kraniosinostozė",
        "diseases": [
          {
            "mondoId": "MONDO:0015338",
            "name": "Sindrominė kraniosinostozė",
            "genes": 23,
            "inheritance": null,
            "description": "Būklės, kuriomis kaukolės siūlų ankstyvas užsivėrimas derinamas su kitomis ypatybėmis, įskaitant Apert, Crouzon, Pfeiffer, Muenke ir Saethre-Chotzen sindromus, kuriuos sukelia tokie genai kaip FGFR2, FGFR3, FGFR1, TWIST1, TCF12 ir ERF.",
            "management": "Ankstyva diagnozė leidžia laiku atlikti operaciją ir stebėti galvos augimą, regą ir klausą; lengvesnės formos, pavyzdžiui, Muenke sindromas, suaugusiesiems gali likti neatpažintos, o tai svarbu planuojant šeimą.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/syndromic-craniosynostosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "ectopic-anus",
        "name": "Abnormal anus position",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ectopic-anus"
      },
      {
        "slug": "abnormal-clavicle-morphology",
        "name": "Abnormal collarbone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-clavicle-morphology"
      },
      {
        "slug": "rectovaginal-fistula",
        "name": "Abnormal connection between rectum and vagina",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/rectovaginal-fistula"
      },
      {
        "slug": "abnormal-corpus-callosum-morphology",
        "name": "Abnormal corpus callosum morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-corpus-callosum-morphology"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-dental-enamel-morphology",
        "name": "Abnormal tooth enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-dental-enamel-morphology"
      },
      {
        "slug": "abnormal-dental-morphology",
        "name": "Abnormality of dental shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-dental-morphology"
      },
      {
        "slug": "abnormal-palate-morphology",
        "name": "Abnormality of the palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-palate-morphology"
      },
      {
        "slug": "anal-atresia",
        "name": "Absent anus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anal-atresia"
      },
      {
        "slug": "aplastic-clavicle",
        "name": "Absent collarbone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplastic-clavicle"
      },
      {
        "slug": "absent-eyebrow",
        "name": "Absent eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-eyebrow"
      },
      {
        "slug": "absent-eyelashes",
        "name": "Absent eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-eyelashes"
      },
      {
        "slug": "plagiocephaly",
        "name": "Asymmetry of the posterior head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/plagiocephaly"
      },
      {
        "slug": "brachycephaly",
        "name": "Broad head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/brachycephaly"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "cerebellar-vermis-atrophy",
        "name": "Cerebellar vermis atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-atrophy"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "coronal-craniosynostosis",
        "name": "Coronal craniosynostosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/coronal-craniosynostosis"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "decreased-liver-function",
        "name": "Decreased liver function",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-liver-function"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-cranial-suture-closure",
        "name": "Delayed cranial suture closure",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-cranial-suture-closure"
      },
      {
        "slug": "delayed-gross-motor-development",
        "name": "Delayed motor skills",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-gross-motor-development"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "dilated-fourth-ventricle",
        "name": "Dilated fourth ventricle",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dilated-fourth-ventricle"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "sagittal-craniosynostosis",
        "name": "Early closure of midline skull joint",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sagittal-craniosynostosis"
      },
      {
        "slug": "eczematoid-dermatitis",
        "name": "Eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/eczematoid-dermatitis"
      },
      {
        "slug": "enlarged-cisterna-magna",
        "name": "Enlarged cisterna magna",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/enlarged-cisterna-magna"
      },
      {
        "slug": "ectropion",
        "name": "Everted eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/ectropion"
      },
      {
        "slug": "febrile-seizure-within-the-age-range-of-3-months-to-6-years",
        "name": "Febrile seizure (within the age range of 3 months to 6 years)",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/febrile-seizure-within-the-age-range-of-3-months-to-6-years"
      },
      {
        "slug": "focal-impaired-awareness-seizure",
        "name": "Focal impaired awareness seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure"
      },
      {
        "slug": "frequent-falls",
        "name": "Frequent falls",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "thick-vermilion-border",
        "name": "Full lips",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thick-vermilion-border"
      },
      {
        "slug": "tarsal-synostosis",
        "name": "Fused ankle bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tarsal-synostosis"
      },
      {
        "slug": "generalized-muscle-weakness",
        "name": "Generalized muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-muscle-weakness"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "head-titubation",
        "name": "Head titubation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/head-titubation"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "parietal-foramina",
        "name": "Holes in parietal bones",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/parietal-foramina"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "truncal-ataxia",
        "name": "Instability or lack of coordination of central trunk muscles",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/truncal-ataxia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "intention-tremor",
        "name": "Intention tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intention-tremor"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "lambdoidal-craniosynostosis",
        "name": "Lambdoidal craniosynostosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lambdoidal-craniosynostosis"
      },
      {
        "slug": "large-posterior-fontanelle",
        "name": "Large posterior fontanelle",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/large-posterior-fontanelle"
      },
      {
        "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": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "neurodevelopmental-abnormality",
        "name": "Neurodevelopmental abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neurodevelopmental-abnormality"
      },
      {
        "slug": "poor-fine-motor-coordination",
        "name": "Poor fine motor coordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/poor-fine-motor-coordination"
      },
      {
        "slug": "porokeratosis",
        "name": "Porokeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/porokeratosis"
      },
      {
        "slug": "rectourethral-fistula",
        "name": "Rectourethral fistula",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rectourethral-fistula"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "short-clavicles",
        "name": "Short collarbone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-clavicles"
      },
      {
        "slug": "short-ribs",
        "name": "Short ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-ribs"
      },
      {
        "slug": "short-thorax",
        "name": "Shorter than typical length between neck and abdomen",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-thorax"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "sparse-eyebrow",
        "name": "Sparse eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/sparse-eyebrow"
      },
      {
        "slug": "sparse-eyelashes",
        "name": "Sparse eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/sparse-eyelashes"
      },
      {
        "slug": "sparse-scalp-hair",
        "name": "Sparse scalp hair",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/sparse-scalp-hair"
      },
      {
        "slug": "thin-fingernail",
        "name": "Thin fingernail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thin-fingernail"
      },
      {
        "slug": "urogenital-fistula",
        "name": "Urogenital fistula",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/urogenital-fistula"
      },
      {
        "slug": "broad-based-gait",
        "name": "Wide based walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/broad-based-gait"
      },
      {
        "slug": "large-fontanelles",
        "name": "Wide fontanelles",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/large-fontanelles"
      },
      {
        "slug": "wide-mouth",
        "name": "Wide mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wide-mouth"
      },
      {
        "slug": "wide-anterior-fontanel",
        "name": "Wider-than-typical soft spot of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/wide-anterior-fontanel"
      },
      {
        "slug": "malar-flattening",
        "name": "Zygomatic flattening",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/malar-flattening"
      }
    ],
    "related": [
      {
        "slug": "cyp26b1",
        "symbol": "CYP26B1",
        "name": "cytochrome P450 family 26 subfamily B member 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cyp26b1"
      },
      {
        "slug": "erf",
        "symbol": "ERF",
        "name": "ETS2 repressor factor",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/erf"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "name": "fibroblast growth factor receptor 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/fgfr1"
      },
      {
        "slug": "fgfr2",
        "symbol": "FGFR2",
        "name": "fibroblast growth factor receptor 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/fgfr2"
      },
      {
        "slug": "fgfr3",
        "symbol": "FGFR3",
        "name": "fibroblast growth factor receptor 3",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/fgfr3"
      },
      {
        "slug": "ift122",
        "symbol": "IFT122",
        "name": "intraflagellar transport 122",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/ift122"
      },
      {
        "slug": "ift43",
        "symbol": "IFT43",
        "name": "intraflagellar transport 43",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/ift43"
      },
      {
        "slug": "ift52",
        "symbol": "IFT52",
        "name": "intraflagellar transport 52",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/ift52"
      },
      {
        "slug": "il11ra",
        "symbol": "IL11RA",
        "name": "interleukin 11 receptor subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/il11ra"
      },
      {
        "slug": "kat6a",
        "symbol": "KAT6A",
        "name": "lysine acetyltransferase 6A",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/kat6a"
      },
      {
        "slug": "megf8",
        "symbol": "MEGF8",
        "name": "multiple EGF like domains 8",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/megf8"
      },
      {
        "slug": "msx2",
        "symbol": "MSX2",
        "name": "msh homeobox 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/msx2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "snRna"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}