{
  "url": "https://dantelabs.com/et/genes/ash1l",
  "gene": {
    "slug": "ash1l",
    "symbol": "ASH1L",
    "name": "ASH1 like histone lysine methyltransferase",
    "hgnc": "HGNC:19088",
    "summary": null,
    "location": "1q22",
    "locusType": "gene with protein product",
    "aliases": [
      "huASH1",
      "ASH1",
      "ASH1L1",
      "KMT2H"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000116539",
    "entrezId": 55870,
    "omim": [
      "607999"
    ],
    "uniprot": [
      "Q9NR48"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 155335268,
      "end": 155562803,
      "strand": "-",
      "ensemblTranscript": "ENST00000392403.8",
      "refseqTranscript": "NM_018489.3",
      "ensemblProtein": "ENSP00000376204.3",
      "refseqProtein": "NP_060959.2",
      "exons": [
        {
          "start": 155335268,
          "end": 155337751
        },
        {
          "start": 155338089,
          "end": 155338390
        },
        {
          "start": 155339328,
          "end": 155339368
        },
        {
          "start": 155341936,
          "end": 155342102
        },
        {
          "start": 155343314,
          "end": 155343486
        },
        {
          "start": 155343604,
          "end": 155343742
        },
        {
          "start": 155344183,
          "end": 155344273
        },
        {
          "start": 155346383,
          "end": 155346469
        },
        {
          "start": 155347656,
          "end": 155347904
        },
        {
          "start": 155349327,
          "end": 155349459
        },
        {
          "start": 155349542,
          "end": 155349596
        },
        {
          "start": 155352706,
          "end": 155352858
        },
        {
          "start": 155354473,
          "end": 155354630
        },
        {
          "start": 155357316,
          "end": 155357410
        },
        {
          "start": 155357585,
          "end": 155357749
        },
        {
          "start": 155360301,
          "end": 155360409
        },
        {
          "start": 155370504,
          "end": 155370650
        },
        {
          "start": 155370777,
          "end": 155370983
        },
        {
          "start": 155378281,
          "end": 155378389
        },
        {
          "start": 155378503,
          "end": 155378548
        },
        {
          "start": 155380043,
          "end": 155380116
        },
        {
          "start": 155395459,
          "end": 155395553
        },
        {
          "start": 155415744,
          "end": 155415923
        },
        {
          "start": 155438327,
          "end": 155439068
        },
        {
          "start": 155459797,
          "end": 155459898
        },
        {
          "start": 155477886,
          "end": 155482449
        },
        {
          "start": 155521100,
          "end": 155521618
        },
        {
          "start": 155562153,
          "end": 155562803
        }
      ],
      "cds": {
        "start": 155337660,
        "end": 155521519
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 155305059,
      "end": 155532598,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 154949036,
      "end": 155949035,
      "genes": [
        {
          "symbol": "PBXIP1",
          "ensemblId": "ENSG00000163346",
          "biotype": "protein_coding",
          "start": 154944059,
          "end": 154956451,
          "strand": "-",
          "slug": "pbxip1"
        },
        {
          "symbol": "PYGO2",
          "ensemblId": "ENSG00000163348",
          "biotype": "protein_coding",
          "start": 154957025,
          "end": 154963853,
          "strand": "-",
          "slug": "pygo2"
        },
        {
          "symbol": "SHC1",
          "ensemblId": "ENSG00000160691",
          "biotype": "protein_coding",
          "start": 154962284,
          "end": 154974452,
          "strand": "-",
          "slug": "shc1"
        },
        {
          "symbol": "CKS1B",
          "ensemblId": "ENSG00000173207",
          "biotype": "protein_coding",
          "start": 154974641,
          "end": 154979256,
          "strand": "+",
          "slug": "cks1b"
        },
        {
          "symbol": "FLAD1",
          "ensemblId": "ENSG00000160688",
          "biotype": "protein_coding",
          "start": 154983311,
          "end": 154993111,
          "strand": "+",
          "slug": "flad1"
        },
        {
          "symbol": "LENEP",
          "ensemblId": "ENSG00000163352",
          "biotype": "protein_coding",
          "start": 154993586,
          "end": 154994315,
          "strand": "+",
          "slug": "lenep"
        },
        {
          "symbol": "ZBTB7B",
          "ensemblId": "ENSG00000160685",
          "biotype": "protein_coding",
          "start": 155002543,
          "end": 155018525,
          "strand": "+",
          "slug": "zbtb7b"
        },
        {
          "symbol": "DCST2",
          "ensemblId": "ENSG00000163354",
          "biotype": "protein_coding",
          "start": 155018520,
          "end": 155033781,
          "strand": "-",
          "slug": "dcst2"
        },
        {
          "symbol": "DCST1",
          "ensemblId": "ENSG00000163357",
          "biotype": "protein_coding",
          "start": 155033824,
          "end": 155050930,
          "strand": "+",
          "slug": "dcst1"
        },
        {
          "symbol": "ADAM15",
          "ensemblId": "ENSG00000143537",
          "biotype": "protein_coding",
          "start": 155050566,
          "end": 155062780,
          "strand": "+",
          "slug": "adam15"
        },
        {
          "symbol": "EFNA4",
          "ensemblId": "ENSG00000243364",
          "biotype": "protein_coding",
          "start": 155063718,
          "end": 155069553,
          "strand": "+",
          "slug": "efna4"
        },
        {
          "symbol": "EFNA4-EFNA3",
          "ensemblId": "ENSG00000251246",
          "biotype": "protein_coding",
          "start": 155063748,
          "end": 155086807,
          "strand": "+"
        },
        {
          "symbol": "EFNA3",
          "ensemblId": "ENSG00000143590",
          "biotype": "protein_coding",
          "start": 155078823,
          "end": 155087538,
          "strand": "+",
          "slug": "efna3"
        },
        {
          "symbol": "EFNA1",
          "ensemblId": "ENSG00000169242",
          "biotype": "protein_coding",
          "start": 155127452,
          "end": 155134899,
          "strand": "+",
          "slug": "efna1"
        },
        {
          "symbol": "SLC50A1",
          "ensemblId": "ENSG00000169241",
          "biotype": "protein_coding",
          "start": 155135344,
          "end": 155138857,
          "strand": "+",
          "slug": "slc50a1"
        },
        {
          "symbol": "DPM3",
          "ensemblId": "ENSG00000179085",
          "biotype": "protein_coding",
          "start": 155138457,
          "end": 155140595,
          "strand": "-",
          "slug": "dpm3"
        },
        {
          "symbol": "KRTCAP2",
          "ensemblId": "ENSG00000163463",
          "biotype": "protein_coding",
          "start": 155169182,
          "end": 155173475,
          "strand": "-",
          "slug": "krtcap2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000273088",
          "biotype": "protein_coding",
          "start": 155169409,
          "end": 155187272,
          "strand": "-"
        },
        {
          "symbol": "TRIM46",
          "ensemblId": "ENSG00000163462",
          "biotype": "protein_coding",
          "start": 155173787,
          "end": 155184971,
          "strand": "+",
          "slug": "trim46"
        },
        {
          "symbol": "MUC1",
          "ensemblId": "ENSG00000185499",
          "biotype": "protein_coding",
          "start": 155185824,
          "end": 155192916,
          "strand": "-",
          "slug": "muc1"
        },
        {
          "symbol": "THBS3",
          "ensemblId": "ENSG00000169231",
          "biotype": "protein_coding",
          "start": 155195584,
          "end": 155209203,
          "strand": "-",
          "slug": "thbs3"
        },
        {
          "symbol": "MTX1",
          "ensemblId": "ENSG00000173171",
          "biotype": "protein_coding",
          "start": 155208695,
          "end": 155213824,
          "strand": "+",
          "slug": "mtx1"
        },
        {
          "symbol": "GBA1",
          "ensemblId": "ENSG00000177628",
          "biotype": "protein_coding",
          "start": 155231270,
          "end": 155245178,
          "strand": "-",
          "slug": "gba1"
        },
        {
          "symbol": "ENTREP3",
          "ensemblId": "ENSG00000160767",
          "biotype": "protein_coding",
          "start": 155247205,
          "end": 155255824,
          "strand": "-",
          "slug": "entrep3"
        },
        {
          "symbol": "SCAMP3",
          "ensemblId": "ENSG00000116521",
          "biotype": "protein_coding",
          "start": 155255979,
          "end": 155262433,
          "strand": "-",
          "slug": "scamp3"
        },
        {
          "symbol": "CLK2",
          "ensemblId": "ENSG00000176444",
          "biotype": "protein_coding",
          "start": 155262747,
          "end": 155278491,
          "strand": "-",
          "slug": "clk2"
        },
        {
          "symbol": "HCN3",
          "ensemblId": "ENSG00000143630",
          "biotype": "protein_coding",
          "start": 155277328,
          "end": 155289848,
          "strand": "+",
          "slug": "hcn3"
        },
        {
          "symbol": "PKLR",
          "ensemblId": "ENSG00000143627",
          "biotype": "protein_coding",
          "start": 155289265,
          "end": 155301443,
          "strand": "-",
          "slug": "pklr"
        },
        {
          "symbol": "FDPS",
          "ensemblId": "ENSG00000160752",
          "biotype": "protein_coding",
          "start": 155304786,
          "end": 155320666,
          "strand": "+",
          "slug": "fdps"
        },
        {
          "symbol": "RUSC1",
          "ensemblId": "ENSG00000160753",
          "biotype": "protein_coding",
          "start": 155320739,
          "end": 155331422,
          "strand": "+",
          "slug": "rusc1"
        },
        {
          "symbol": "MSTO1",
          "ensemblId": "ENSG00000125459",
          "biotype": "protein_coding",
          "start": 155563235,
          "end": 155616644,
          "strand": "+",
          "slug": "msto1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000287839",
          "biotype": "protein_coding",
          "start": 155626755,
          "end": 155648640,
          "strand": "-"
        },
        {
          "symbol": "YY1AP1",
          "ensemblId": "ENSG00000163374",
          "biotype": "protein_coding",
          "start": 155659446,
          "end": 155689334,
          "strand": "-",
          "slug": "yy1ap1"
        },
        {
          "symbol": "DAP3",
          "ensemblId": "ENSG00000132676",
          "biotype": "protein_coding",
          "start": 155687833,
          "end": 155740132,
          "strand": "+",
          "slug": "dap3"
        },
        {
          "symbol": "GON4L",
          "ensemblId": "ENSG00000116580",
          "biotype": "protein_coding",
          "start": 155749659,
          "end": 155859439,
          "strand": "-",
          "slug": "gon4l"
        },
        {
          "symbol": "SYT11",
          "ensemblId": "ENSG00000132718",
          "biotype": "protein_coding",
          "start": 155859449,
          "end": 155885199,
          "strand": "+",
          "slug": "syt11"
        },
        {
          "symbol": "RIT1",
          "ensemblId": "ENSG00000143622",
          "biotype": "protein_coding",
          "start": 155897808,
          "end": 155911408,
          "strand": "-",
          "slug": "rit1"
        },
        {
          "symbol": "KHDC4",
          "ensemblId": "ENSG00000132680",
          "biotype": "protein_coding",
          "start": 155913043,
          "end": 155934416,
          "strand": "-",
          "slug": "khdc4"
        },
        {
          "symbol": "RXFP4",
          "ensemblId": "ENSG00000173080",
          "biotype": "protein_coding",
          "start": 155941638,
          "end": 155943087,
          "strand": "+",
          "slug": "rxfp4"
        },
        {
          "symbol": "ARHGEF2",
          "ensemblId": "ENSG00000116584",
          "biotype": "protein_coding",
          "start": 155944685,
          "end": 156007070,
          "strand": "-",
          "slug": "arhgef2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "intellectual-disability",
        "name": "Intellektipuue",
        "diseases": [
          {
            "mondoId": "MONDO:0001071",
            "name": "intellektipuue",
            "genes": 233,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/et/conditions/intellectual-disability"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "astigmatism",
        "name": "Astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/astigmatism"
      },
      {
        "slug": "asymmetry-of-the-ears",
        "name": "Asymmetric ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/asymmetry-of-the-ears"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "convex-nasal-ridge",
        "name": "Beaked nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/convex-nasal-ridge"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "bilateral-cryptorchidism",
        "name": "Bilateral cryptorchidism",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bilateral-cryptorchidism"
      },
      {
        "slug": "cervical-c2-c3-vertebral-fusion",
        "name": "Cervical C2/C3 vertebral fusion",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cervical-c2-c3-vertebral-fusion"
      },
      {
        "slug": "chronic-constipation",
        "name": "Chronic constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-constipation"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "deeply-set-eye",
        "name": "Deeply set eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/deeply-set-eye"
      },
      {
        "slug": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "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": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "downturned-corners-of-mouth",
        "name": "Downturned corners of mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/downturned-corners-of-mouth"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "excessive-daytime-somnolence",
        "name": "Excessive daytime sleepiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/excessive-daytime-somnolence"
      },
      {
        "slug": "lumbar-hyperlordosis",
        "name": "Excessive inward curvature of lower spine",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lumbar-hyperlordosis"
      },
      {
        "slug": "hypermetropia",
        "name": "Farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypermetropia"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "breech-presentation",
        "name": "Feet or buttocks of fetus positioned near opening of uterus",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/breech-presentation"
      },
      {
        "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": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "horizontal-nystagmus",
        "name": "Horizontal nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/horizontal-nystagmus"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "dolichocephaly",
        "name": "Long, narrow head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dolichocephaly"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "lumbar-scoliosis",
        "name": "Lumbar scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lumbar-scoliosis"
      },
      {
        "slug": "synophrys",
        "name": "Monobrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/synophrys"
      },
      {
        "slug": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "obsessive-compulsive-trait",
        "name": "Obsessive-compulsive trait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/obsessive-compulsive-trait"
      },
      {
        "slug": "open-mouth",
        "name": "Open mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/open-mouth"
      },
      {
        "slug": "overweight",
        "name": "Overweight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/overweight"
      },
      {
        "slug": "pica",
        "name": "Pica",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pica"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "prominent-nasal-bridge",
        "name": "Prominent nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prominent-nasal-bridge"
      },
      {
        "slug": "prominent-nose",
        "name": "Prominent nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prominent-nose"
      },
      {
        "slug": "motor-stereotypy",
        "name": "Repetitive movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-stereotypy"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "short-philtrum",
        "name": "Short philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-philtrum"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "smooth-philtrum",
        "name": "Smooth philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/smooth-philtrum"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "wide-intermamillary-distance",
        "name": "Wide-spaced nipples",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-intermamillary-distance"
      },
      {
        "slug": "scapular-winging",
        "name": "Winged shoulder blade",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scapular-winging"
      }
    ],
    "related": [
      {
        "slug": "acsl4",
        "symbol": "ACSL4",
        "name": "acyl-CoA synthetase long chain family member 4",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/acsl4"
      },
      {
        "slug": "adk",
        "symbol": "ADK",
        "name": "adenosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/adk"
      },
      {
        "slug": "adnp",
        "symbol": "ADNP",
        "name": "activity dependent neuroprotector homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/adnp"
      },
      {
        "slug": "aff2",
        "symbol": "AFF2",
        "name": "ALF transcription elongation factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/aff2"
      },
      {
        "slug": "ahdc1",
        "symbol": "AHDC1",
        "name": "AT-hook DNA binding motif containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ahdc1"
      },
      {
        "slug": "alkbh8",
        "symbol": "ALKBH8",
        "name": "alkB homolog 8, tRNA methyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/alkbh8"
      },
      {
        "slug": "ank3",
        "symbol": "ANK3",
        "name": "ankyrin 3",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ank3"
      },
      {
        "slug": "ankrd11",
        "symbol": "ANKRD11",
        "name": "ankyrin repeat domain 11",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ankrd11"
      },
      {
        "slug": "ap1s2",
        "symbol": "AP1S2",
        "name": "adaptor related protein complex 1 subunit sigma 2",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ap1s2"
      },
      {
        "slug": "ap2m1",
        "symbol": "AP2M1",
        "name": "adaptor related protein complex 2 subunit mu 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ap2m1"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/arhgef9"
      },
      {
        "slug": "arid1a",
        "symbol": "ARID1A",
        "name": "AT-rich interaction domain 1A",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/arid1a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}