{
  "url": "https://dantelabs.com/hu/genes/huwe1",
  "gene": {
    "slug": "huwe1",
    "symbol": "HUWE1",
    "name": "HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1",
    "hgnc": "HGNC:30892",
    "summary": null,
    "location": "Xp11.22",
    "locusType": "gene with protein product",
    "aliases": [
      "Ib772",
      "KIAA0312",
      "UREB1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000086758",
    "entrezId": 10075,
    "omim": [
      "300697"
    ],
    "uniprot": [
      "Q7Z6Z7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 53532096,
      "end": 53686719,
      "strand": "-",
      "ensemblTranscript": "ENST00000262854.11",
      "refseqTranscript": "NM_031407.7",
      "ensemblProtein": "ENSP00000262854.6",
      "refseqProtein": "NP_113584.3",
      "exons": [
        {
          "start": 53532096,
          "end": 53533411
        },
        {
          "start": 53534007,
          "end": 53534197
        },
        {
          "start": 53534516,
          "end": 53534697
        },
        {
          "start": 53535384,
          "end": 53535501
        },
        {
          "start": 53536147,
          "end": 53536252
        },
        {
          "start": 53536380,
          "end": 53536667
        },
        {
          "start": 53537556,
          "end": 53537696
        },
        {
          "start": 53538337,
          "end": 53538454
        },
        {
          "start": 53538835,
          "end": 53539080
        },
        {
          "start": 53539657,
          "end": 53539812
        },
        {
          "start": 53542443,
          "end": 53542539
        },
        {
          "start": 53543841,
          "end": 53543968
        },
        {
          "start": 53544560,
          "end": 53544762
        },
        {
          "start": 53545029,
          "end": 53545161
        },
        {
          "start": 53546436,
          "end": 53546592
        },
        {
          "start": 53546704,
          "end": 53546825
        },
        {
          "start": 53547673,
          "end": 53548273
        },
        {
          "start": 53548959,
          "end": 53549505
        },
        {
          "start": 53550666,
          "end": 53550768
        },
        {
          "start": 53550901,
          "end": 53551189
        },
        {
          "start": 53551266,
          "end": 53551480
        },
        {
          "start": 53552311,
          "end": 53552441
        },
        {
          "start": 53552638,
          "end": 53552893
        },
        {
          "start": 53554633,
          "end": 53554920
        },
        {
          "start": 53557382,
          "end": 53557427
        },
        {
          "start": 53558655,
          "end": 53558809
        },
        {
          "start": 53558971,
          "end": 53559060
        },
        {
          "start": 53559354,
          "end": 53559532
        },
        {
          "start": 53560188,
          "end": 53560416
        },
        {
          "start": 53561756,
          "end": 53561924
        },
        {
          "start": 53562111,
          "end": 53562244
        },
        {
          "start": 53562831,
          "end": 53562929
        },
        {
          "start": 53563746,
          "end": 53563821
        },
        {
          "start": 53564574,
          "end": 53564722
        },
        {
          "start": 53565067,
          "end": 53565239
        },
        {
          "start": 53568692,
          "end": 53568874
        },
        {
          "start": 53569616,
          "end": 53569827
        },
        {
          "start": 53573750,
          "end": 53573964
        },
        {
          "start": 53575155,
          "end": 53575221
        },
        {
          "start": 53575643,
          "end": 53575788
        },
        {
          "start": 53576900,
          "end": 53577067
        },
        {
          "start": 53580831,
          "end": 53581026
        },
        {
          "start": 53583558,
          "end": 53583916
        },
        {
          "start": 53584186,
          "end": 53584345
        },
        {
          "start": 53585012,
          "end": 53585188
        },
        {
          "start": 53586490,
          "end": 53586571
        },
        {
          "start": 53586782,
          "end": 53586909
        },
        {
          "start": 53588382,
          "end": 53588534
        },
        {
          "start": 53589547,
          "end": 53589816
        },
        {
          "start": 53590404,
          "end": 53590499
        },
        {
          "start": 53591000,
          "end": 53591122
        },
        {
          "start": 53592398,
          "end": 53592628
        },
        {
          "start": 53593364,
          "end": 53593601
        },
        {
          "start": 53594499,
          "end": 53594621
        },
        {
          "start": 53595187,
          "end": 53595403
        },
        {
          "start": 53600118,
          "end": 53600309
        },
        {
          "start": 53602564,
          "end": 53602658
        },
        {
          "start": 53603368,
          "end": 53603501
        },
        {
          "start": 53604589,
          "end": 53604834
        },
        {
          "start": 53607523,
          "end": 53607699
        },
        {
          "start": 53608852,
          "end": 53608909
        },
        {
          "start": 53614534,
          "end": 53614745
        },
        {
          "start": 53615744,
          "end": 53615835
        },
        {
          "start": 53616970,
          "end": 53617147
        },
        {
          "start": 53617340,
          "end": 53617446
        },
        {
          "start": 53624595,
          "end": 53624675
        },
        {
          "start": 53625157,
          "end": 53625258
        },
        {
          "start": 53627410,
          "end": 53627515
        },
        {
          "start": 53627739,
          "end": 53627879
        },
        {
          "start": 53628493,
          "end": 53628620
        },
        {
          "start": 53628752,
          "end": 53628902
        },
        {
          "start": 53629516,
          "end": 53629616
        },
        {
          "start": 53630935,
          "end": 53631034
        },
        {
          "start": 53631414,
          "end": 53631482
        },
        {
          "start": 53631567,
          "end": 53631614
        },
        {
          "start": 53632487,
          "end": 53632564
        },
        {
          "start": 53634236,
          "end": 53634298
        },
        {
          "start": 53645311,
          "end": 53645463
        },
        {
          "start": 53647368,
          "end": 53647574
        },
        {
          "start": 53648212,
          "end": 53648310
        },
        {
          "start": 53654063,
          "end": 53654131
        },
        {
          "start": 53680049,
          "end": 53680186
        },
        {
          "start": 53686270,
          "end": 53686368
        },
        {
          "start": 53686588,
          "end": 53686719
        }
      ],
      "cds": {
        "start": 53533309,
        "end": 53654107
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 53559057,
      "end": 53713673,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 53109408,
      "end": 54109407,
      "genes": [
        {
          "symbol": "KANTR",
          "ensemblId": "ENSG00000232593",
          "biotype": "protein_coding",
          "start": 53094092,
          "end": 53170914,
          "strand": "+",
          "slug": "kantr"
        },
        {
          "symbol": "KDM5C",
          "ensemblId": "ENSG00000126012",
          "biotype": "protein_coding",
          "start": 53176277,
          "end": 53225422,
          "strand": "-",
          "slug": "kdm5c"
        },
        {
          "symbol": "IQSEC2",
          "ensemblId": "ENSG00000124313",
          "biotype": "protein_coding",
          "start": 53225828,
          "end": 53321396,
          "strand": "-",
          "slug": "iqsec2"
        },
        {
          "symbol": "SMC1A",
          "ensemblId": "ENSG00000072501",
          "biotype": "protein_coding",
          "start": 53361522,
          "end": 53422750,
          "strand": "-",
          "slug": "smc1a"
        },
        {
          "symbol": "RIBC1",
          "ensemblId": "ENSG00000158423",
          "biotype": "protein_coding",
          "start": 53421951,
          "end": 53431624,
          "strand": "+",
          "slug": "ribc1"
        },
        {
          "symbol": "HSD17B10",
          "ensemblId": "ENSG00000072506",
          "biotype": "protein_coding",
          "start": 53431258,
          "end": 53434403,
          "strand": "-",
          "slug": "hsd17b10"
        },
        {
          "symbol": "PHF8",
          "ensemblId": "ENSG00000172943",
          "biotype": "protein_coding",
          "start": 53934245,
          "end": 54048958,
          "strand": "-",
          "slug": "phf8"
        },
        {
          "symbol": "FAM120C",
          "ensemblId": "ENSG00000184083",
          "biotype": "protein_coding",
          "start": 54068324,
          "end": 54183581,
          "strand": "-",
          "slug": "fam120c"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "intellectual-disability",
        "name": "Intellectual Disability",
        "diseases": [
          {
            "mondoId": "MONDO:0001071",
            "name": "intellectual disability",
            "genes": 233,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/intellectual-disability"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hypotelorism",
        "name": "Abnormally close eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotelorism"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "brachycephaly",
        "name": "Broad head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/brachycephaly"
      },
      {
        "slug": "broad-nasal-tip",
        "name": "Broad nasal tip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/broad-nasal-tip"
      },
      {
        "slug": "bulbous-nose",
        "name": "Bulbous nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/bulbous-nose"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cupped-ear",
        "name": "Cupped ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/cupped-ear"
      },
      {
        "slug": "clinodactyly",
        "name": "Curvature of digit",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/clinodactyly"
      },
      {
        "slug": "deeply-set-eye",
        "name": "Deeply set eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/deeply-set-eye"
      },
      {
        "slug": "craniosynostosis",
        "name": "Deformity of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/craniosynostosis"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "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": "epicanthus-inversus",
        "name": "Epicanthus inversus",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/epicanthus-inversus"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "oligodontia",
        "name": "Failure of development of more than six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oligodontia"
      },
      {
        "slug": "hypermetropia",
        "name": "Farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypermetropia"
      },
      {
        "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": "thick-lower-lip-vermilion",
        "name": "Full lower lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thick-lower-lip-vermilion"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "incoordination",
        "name": "Incoordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/incoordination"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "esotropia",
        "name": "Inward turning cross eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/esotropia"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "long-face",
        "name": "Long face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/long-face"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "low-posterior-hairline",
        "name": "Low hairline at back of neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/low-posterior-hairline"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "narrow-mouth",
        "name": "Narrow mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/narrow-mouth"
      },
      {
        "slug": "blepharophimosis",
        "name": "Narrow opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blepharophimosis"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "overlapping-toe",
        "name": "Overlapping toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/overlapping-toe"
      },
      {
        "slug": "camptodactyly",
        "name": "Permanent flexion of the finger or toe",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/camptodactyly"
      },
      {
        "slug": "protruding-ear",
        "name": "Prominent ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/protruding-ear"
      },
      {
        "slug": "motor-stereotypy",
        "name": "Repetitive movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-stereotypy"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-foot",
        "name": "Short foot",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-foot"
      },
      {
        "slug": "short-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "short-palpebral-fissure",
        "name": "Short opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/short-palpebral-fissure"
      },
      {
        "slug": "micropenis",
        "name": "Short penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/micropenis"
      },
      {
        "slug": "short-philtrum",
        "name": "Short philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-philtrum"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "small-hand",
        "name": "Small hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/small-hand"
      },
      {
        "slug": "small-nail",
        "name": "Small nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/small-nail"
      },
      {
        "slug": "spastic-diplegia",
        "name": "Spastic diplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spastic-diplegia"
      },
      {
        "slug": "tapered-finger",
        "name": "Tapered finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/tapered-finger"
      },
      {
        "slug": "thin-upper-lip-vermilion",
        "name": "Thin red part of the upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion"
      },
      {
        "slug": "triangular-face",
        "name": "Triangular face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/triangular-face"
      },
      {
        "slug": "trigonocephaly",
        "name": "Triangular head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/trigonocephaly"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "upslanted-palpebral-fissure",
        "name": "Upward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "wide-mouth",
        "name": "Wide mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/wide-mouth"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "acsl4",
        "symbol": "ACSL4",
        "name": "acyl-CoA synthetase long chain family member 4",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/acsl4"
      },
      {
        "slug": "adk",
        "symbol": "ADK",
        "name": "adenosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/adk"
      },
      {
        "slug": "adnp",
        "symbol": "ADNP",
        "name": "activity dependent neuroprotector homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/adnp"
      },
      {
        "slug": "aff2",
        "symbol": "AFF2",
        "name": "ALF transcription elongation factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aff2"
      },
      {
        "slug": "ahdc1",
        "symbol": "AHDC1",
        "name": "AT-hook DNA binding motif containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ahdc1"
      },
      {
        "slug": "alkbh8",
        "symbol": "ALKBH8",
        "name": "alkB homolog 8, tRNA methyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/alkbh8"
      },
      {
        "slug": "ank3",
        "symbol": "ANK3",
        "name": "ankyrin 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ank3"
      },
      {
        "slug": "ankrd11",
        "symbol": "ANKRD11",
        "name": "ankyrin repeat domain 11",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ankrd11"
      },
      {
        "slug": "ap1s2",
        "symbol": "AP1S2",
        "name": "adaptor related protein complex 1 subunit sigma 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ap1s2"
      },
      {
        "slug": "ap2m1",
        "symbol": "AP2M1",
        "name": "adaptor related protein complex 2 subunit mu 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ap2m1"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/arhgef9"
      },
      {
        "slug": "arid1a",
        "symbol": "ARID1A",
        "name": "AT-rich interaction domain 1A",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/arid1a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}