{
  "url": "https://dantelabs.com/hu/genes/tbc1d20",
  "gene": {
    "slug": "tbc1d20",
    "symbol": "TBC1D20",
    "name": "TBC1 domain family member 20",
    "hgnc": "HGNC:16133",
    "summary": null,
    "location": "20p13",
    "locusType": "gene with protein product",
    "aliases": [
      "dJ852M4.2"
    ],
    "previousSymbols": [
      "C20orf140"
    ],
    "ensemblId": "ENSG00000125875",
    "entrezId": 128637,
    "omim": [
      "611663"
    ],
    "uniprot": [
      "Q96BZ9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 435480,
      "end": 462533,
      "strand": "-",
      "ensemblTranscript": "ENST00000354200.5",
      "refseqTranscript": "NM_144628.4",
      "ensemblProtein": "ENSP00000346139.4",
      "refseqProtein": "NP_653229.1",
      "exons": [
        {
          "start": 435480,
          "end": 438841
        },
        {
          "start": 439108,
          "end": 439295
        },
        {
          "start": 440248,
          "end": 440389
        },
        {
          "start": 441588,
          "end": 441689
        },
        {
          "start": 441857,
          "end": 442043
        },
        {
          "start": 445050,
          "end": 445130
        },
        {
          "start": 447889,
          "end": 448074
        },
        {
          "start": 462336,
          "end": 462533
        }
      ],
      "cds": {
        "start": 438586,
        "end": 462405
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 416124,
      "end": 443197,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 1,
      "end": 949006,
      "genes": [
        {
          "symbol": "DEFB125",
          "ensemblId": "ENSG00000178591",
          "biotype": "protein_coding",
          "start": 87250,
          "end": 97094,
          "strand": "+",
          "slug": "defb125"
        },
        {
          "symbol": "DEFB126",
          "ensemblId": "ENSG00000125788",
          "biotype": "protein_coding",
          "start": 142590,
          "end": 145751,
          "strand": "+",
          "slug": "defb126"
        },
        {
          "symbol": "DEFB127",
          "ensemblId": "ENSG00000088782",
          "biotype": "protein_coding",
          "start": 157454,
          "end": 159163,
          "strand": "+",
          "slug": "defb127"
        },
        {
          "symbol": "DEFB128",
          "ensemblId": "ENSG00000185982",
          "biotype": "protein_coding",
          "start": 187853,
          "end": 189711,
          "strand": "-",
          "slug": "defb128"
        },
        {
          "symbol": "DEFB129",
          "ensemblId": "ENSG00000125903",
          "biotype": "protein_coding",
          "start": 227258,
          "end": 229886,
          "strand": "+",
          "slug": "defb129"
        },
        {
          "symbol": "DEFB132",
          "ensemblId": "ENSG00000186458",
          "biotype": "protein_coding",
          "start": 257717,
          "end": 261096,
          "strand": "+",
          "slug": "defb132"
        },
        {
          "symbol": "C20orf96",
          "ensemblId": "ENSG00000196476",
          "biotype": "protein_coding",
          "start": 270863,
          "end": 290778,
          "strand": "-",
          "slug": "c20orf96"
        },
        {
          "symbol": "ZCCHC3",
          "ensemblId": "ENSG00000247315",
          "biotype": "protein_coding",
          "start": 297570,
          "end": 300321,
          "strand": "+",
          "slug": "zcchc3"
        },
        {
          "symbol": "SOX12",
          "ensemblId": "ENSG00000177732",
          "biotype": "protein_coding",
          "start": 325552,
          "end": 330224,
          "strand": "+",
          "slug": "sox12"
        },
        {
          "symbol": "NRSN2",
          "ensemblId": "ENSG00000125841",
          "biotype": "protein_coding",
          "start": 346695,
          "end": 359706,
          "strand": "+",
          "slug": "nrsn2"
        },
        {
          "symbol": "TRIB3",
          "ensemblId": "ENSG00000101255",
          "biotype": "protein_coding",
          "start": 362835,
          "end": 398964,
          "strand": "+",
          "slug": "trib3"
        },
        {
          "symbol": "RBCK1",
          "ensemblId": "ENSG00000125826",
          "biotype": "protein_coding",
          "start": 407393,
          "end": 432139,
          "strand": "+",
          "slug": "rbck1"
        },
        {
          "symbol": "CSNK2A1",
          "ensemblId": "ENSG00000101266",
          "biotype": "protein_coding",
          "start": 472498,
          "end": 543835,
          "strand": "-",
          "slug": "csnk2a1"
        },
        {
          "symbol": "TCF15",
          "ensemblId": "ENSG00000125878",
          "biotype": "protein_coding",
          "start": 603801,
          "end": 610316,
          "strand": "-",
          "slug": "tcf15"
        },
        {
          "symbol": "SRXN1",
          "ensemblId": "ENSG00000271303",
          "biotype": "protein_coding",
          "start": 646614,
          "end": 653404,
          "strand": "-",
          "slug": "srxn1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000270299",
          "biotype": "protein_coding",
          "start": 646626,
          "end": 675800,
          "strand": "-"
        },
        {
          "symbol": "SCRT2",
          "ensemblId": "ENSG00000215397",
          "biotype": "protein_coding",
          "start": 661596,
          "end": 675802,
          "strand": "-",
          "slug": "scrt2"
        },
        {
          "symbol": "SLC52A3",
          "ensemblId": "ENSG00000101276",
          "biotype": "protein_coding",
          "start": 758695,
          "end": 776015,
          "strand": "-",
          "slug": "slc52a3"
        },
        {
          "symbol": "FAM110A",
          "ensemblId": "ENSG00000125898",
          "biotype": "protein_coding",
          "start": 833707,
          "end": 857463,
          "strand": "+",
          "slug": "fam110a"
        },
        {
          "symbol": "ANGPT4",
          "ensemblId": "ENSG00000101280",
          "biotype": "protein_coding",
          "start": 869900,
          "end": 916335,
          "strand": "-",
          "slug": "angpt4"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "microphthalmia-anophthalmia-coloboma",
        "name": "Microphthalmia, Anophthalmia & Coloboma",
        "diseases": [
          {
            "mondoId": "MONDO:0016073",
            "name": "Syndromic Microphthalmia",
            "genes": 19,
            "inheritance": null,
            "description": "Microphthalmia occurring with features outside the eye, caused by changes in genes such as SOX2, OTX2, BCOR, STRA6 and BMP4.",
            "management": "A genetic diagnosis guides checks for associated features, such as pituitary hormone problems with SOX2 or OTX2, and informs recurrence risk.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/microphthalmia-anophthalmia-coloboma"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-localization-of-kidney",
        "name": "Abnormal localisation of kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-localization-of-kidney"
      },
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "abnormal-cerebellum-morphology",
        "name": "Abnormality of the cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cerebellum-morphology"
      },
      {
        "slug": "abnormality-of-visual-evoked-potentials",
        "name": "Abnormality of visual evoked potentials",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-visual-evoked-potentials"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-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": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-corpus-callosum",
        "name": "Aplasia/Hypoplasia of the corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "brachycephaly",
        "name": "Broad head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brachycephaly"
      },
      {
        "slug": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "cerebral-visual-impairment",
        "name": "Cerebral visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebral-visual-impairment"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "developmental-cataract",
        "name": "Clouding of the lens of the eye at birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/developmental-cataract"
      },
      {
        "slug": "microcornea",
        "name": "Cornea of eye less than 10mm in diameter",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microcornea"
      },
      {
        "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"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "decreased-motor-nerve-conduction-velocity",
        "name": "Decreased motor nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-motor-nerve-conduction-velocity"
      },
      {
        "slug": "decreased-muscle-mass",
        "name": "Decreased muscle mass",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-muscle-mass"
      },
      {
        "slug": "decreased-testicular-size",
        "name": "Decreased testicular size",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-testicular-size"
      },
      {
        "slug": "deeply-set-eye",
        "name": "Deeply set eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/deeply-set-eye"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "secondary-microcephaly",
        "name": "Development of small head that was not present at birth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/secondary-microcephaly"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "hirsutism",
        "name": "Excessive hairiness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hirsutism"
      },
      {
        "slug": "generalized-hirsutism",
        "name": "Excessive hairiness over body",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hirsutism"
      },
      {
        "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": "pachygyria",
        "name": "Fewer and broader ridges in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pachygyria"
      },
      {
        "slug": "lissencephaly",
        "name": "Fewer or absent grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lissencephaly"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "retinal-coloboma",
        "name": "Hole in the back of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-coloboma"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "hydronephrosis",
        "name": "Hydronephrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydronephrosis"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "profound-intellectual-disability",
        "name": "IQ less than 20",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/profound-intellectual-disability"
      },
      {
        "slug": "joint-stiffness",
        "name": "Joint stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/joint-stiffness"
      },
      {
        "slug": "macrotia",
        "name": "Large ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrotia"
      },
      {
        "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": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "low-anterior-hairline",
        "name": "Low frontal hairline",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-anterior-hairline"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "narrow-mouth",
        "name": "Narrow mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/narrow-mouth"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "perisylvian-polymicrogyria",
        "name": "Perisylvian polymicrogyria",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/perisylvian-polymicrogyria"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "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": "status-epilepticus",
        "name": "Repeated seizures without recovery between them",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/status-epilepticus"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "severe-postnatal-growth-retardation",
        "name": "Severe growth delay in children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-postnatal-growth-retardation"
      },
      {
        "slug": "short-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "micropenis",
        "name": "Short penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/micropenis"
      },
      {
        "slug": "short-philtrum",
        "name": "Short philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-philtrum"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "clitoral-hypoplasia",
        "name": "Small clitoris",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clitoral-hypoplasia"
      },
      {
        "slug": "small-scrotum",
        "name": "Smaller than typical growth of scrotum",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/small-scrotum"
      },
      {
        "slug": "spastic-tetraplegia",
        "name": "Spastic tetraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spastic-tetraplegia"
      },
      {
        "slug": "hypoplastic-labia-minora",
        "name": "Underdeveloped inner lips",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-labia-minora"
      },
      {
        "slug": "hypoplasia-of-penis",
        "name": "Underdeveloped penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-penis"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      }
    ],
    "related": [
      {
        "slug": "bcor",
        "symbol": "BCOR",
        "name": "BCL6 corepressor",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/bcor"
      },
      {
        "slug": "bmp4",
        "symbol": "BMP4",
        "name": "bone morphogenetic protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/bmp4"
      },
      {
        "slug": "cox7b",
        "symbol": "COX7B",
        "name": "cytochrome c oxidase subunit 7B",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cox7b"
      },
      {
        "slug": "ercc1",
        "symbol": "ERCC1",
        "name": "ERCC excision repair 1, endonuclease non-catalytic subunit",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ercc1"
      },
      {
        "slug": "ercc2",
        "symbol": "ERCC2",
        "name": "ERCC excision repair 2, TFIIH core complex helicase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ercc2"
      },
      {
        "slug": "ercc5",
        "symbol": "ERCC5",
        "name": "ERCC excision repair 5, endonuclease",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ercc5"
      },
      {
        "slug": "fat1",
        "symbol": "FAT1",
        "name": "FAT atypical cadherin 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/fat1"
      },
      {
        "slug": "hccs",
        "symbol": "HCCS",
        "name": "holocytochrome c synthase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/hccs"
      },
      {
        "slug": "hmx1",
        "symbol": "HMX1",
        "name": "H6 family homeobox 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/hmx1"
      },
      {
        "slug": "mab21l2",
        "symbol": "MAB21L2",
        "name": "mab-21 like 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/mab21l2"
      },
      {
        "slug": "ndufb11",
        "symbol": "NDUFB11",
        "name": "NADH:ubiquinone oxidoreductase subunit B11",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ndufb11"
      },
      {
        "slug": "otx2",
        "symbol": "OTX2",
        "name": "orthodenticle homeobox 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/otx2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}