{
  "url": "https://dantelabs.com/sv/genes/alx4",
  "gene": {
    "slug": "alx4",
    "symbol": "ALX4",
    "name": "ALX homeobox 4",
    "hgnc": "HGNC:450",
    "summary": null,
    "location": "11p11.2",
    "locusType": "gene with protein product",
    "aliases": [
      "FPP",
      "PFM",
      "KIAA1788"
    ],
    "previousSymbols": [
      "PFM2"
    ],
    "ensemblId": "ENSG00000052850",
    "entrezId": 60529,
    "omim": [
      "605420"
    ],
    "uniprot": [
      "Q9H161"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 44260440,
      "end": 44310139,
      "strand": "-",
      "ensemblTranscript": "ENST00000652299.1",
      "refseqTranscript": "NM_021926.4",
      "ensemblProtein": "ENSP00000498217.1",
      "refseqProtein": "NP_068745.2",
      "exons": [
        {
          "start": 44260440,
          "end": 44265183
        },
        {
          "start": 44267494,
          "end": 44267622
        },
        {
          "start": 44275348,
          "end": 44275658
        },
        {
          "start": 44309597,
          "end": 44310139
        }
      ],
      "cds": {
        "start": 44264854,
        "end": 44310062
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 44281994,
      "end": 44331716,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 43785290,
      "end": 44785289,
      "genes": [
        {
          "symbol": "HSD17B12",
          "ensemblId": "ENSG00000149084",
          "biotype": "protein_coding",
          "start": 43680509,
          "end": 43857741,
          "strand": "+",
          "slug": "hsd17b12"
        },
        {
          "symbol": "ALKBH3",
          "ensemblId": "ENSG00000166199",
          "biotype": "protein_coding",
          "start": 43880811,
          "end": 43920370,
          "strand": "+",
          "slug": "alkbh3"
        },
        {
          "symbol": "C11orf96",
          "ensemblId": "ENSG00000187479",
          "biotype": "protein_coding",
          "start": 43942637,
          "end": 43943878,
          "strand": "+",
          "slug": "c11orf96"
        },
        {
          "symbol": "ACCSL",
          "ensemblId": "ENSG00000205126",
          "biotype": "protein_coding",
          "start": 44047981,
          "end": 44059977,
          "strand": "+",
          "slug": "accsl"
        },
        {
          "symbol": "ACCS",
          "ensemblId": "ENSG00000110455",
          "biotype": "protein_coding",
          "start": 44065916,
          "end": 44086590,
          "strand": "+",
          "slug": "accs"
        },
        {
          "symbol": "EXT2",
          "ensemblId": "ENSG00000151348",
          "biotype": "protein_coding",
          "start": 44095648,
          "end": 44284513,
          "strand": "+",
          "slug": "ext2"
        },
        {
          "symbol": "CD82",
          "ensemblId": "ENSG00000085117",
          "biotype": "protein_coding",
          "start": 44564414,
          "end": 44621071,
          "strand": "+",
          "slug": "cd82"
        },
        {
          "symbol": "TSPAN18",
          "ensemblId": "ENSG00000157570",
          "biotype": "protein_coding",
          "start": 44726322,
          "end": 44932427,
          "strand": "+",
          "slug": "tspan18"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "enlarged-parietal-foramina-msx2",
        "name": "Förstorade parietala foramina (MSX2)",
        "diseases": [
          {
            "mondoId": "MONDO:0018953",
            "name": "Förstorade parietala foramina (MSX2)",
            "genes": 2,
            "inheritance": "autosomal-dominant",
            "description": "Denna form orsakas av en förändring i en kopia av genen MSX2, som styr benbildningen i skallen. Nedsatt MSX2-funktion gör att skallbenen i parietalregionen inte bildas helt. Den ärvs vanligtvis från en förälder.",
            "management": "Bilddiagnostik för att bedöma öppningarna och skyddet av huvudet mot skador, särskilt under barndomen; kirurgi behövs vanligtvis inte. Varje barn till en drabbad person har en chans på 1 av 2 att ärva förändringen, så genetisk rådgivning och familjetestning kan erbjudas.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/enlarged-parietal-foramina-msx2"
      },
      {
        "slug": "frontonasal-dysplasia-alx4",
        "name": "Frontonasal dysplasi med alopeci och genitala avvikelser (ALX4)",
        "diseases": [
          {
            "mondoId": "MONDO:0013268",
            "name": "Frontonasal dysplasi med alopeci och genitala avvikelser",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Orsakas av förändringar i ALX4, en gen som styr utvecklingen av skalle och ansikte. Recessiva fall har förändringar i båda kopiorna, och en enskild förändring i ALX4 kan orsaka förstorade öppningar i skallbenen (parietala foramina), så bärarföräldrar kan ha detta.",
            "management": "Bedömning av kraniofacial, dermatologisk, urologisk och utvecklingsmässig art, med kirurgi vid ansikts- eller genitala skillnader där det behövs. Genetisk rådgivning förklarar den recessiva ärftligheten, och bärartestning finns tillgänglig för släktingar.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/frontonasal-dysplasia-alx4"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cerebral-vein-morphology",
        "name": "Abnormal cerebral vein morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-vein-morphology"
      },
      {
        "slug": "abnormality-of-the-dentition",
        "name": "Abnormal dentition",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-dentition"
      },
      {
        "slug": "abnormal-posterior-cranial-fossa-morphology",
        "name": "Abnormal posterior cranial fossa morphology",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-posterior-cranial-fossa-morphology"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "aplasia-of-the-nasal-bone",
        "name": "Absence of the nasal bone",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-of-the-nasal-bone"
      },
      {
        "slug": "agenesis-of-cerebellar-vermis",
        "name": "Agenesis of cerebellar vermis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agenesis-of-cerebellar-vermis"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "alopecia-totalis",
        "name": "Alopecia totalis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/alopecia-totalis"
      },
      {
        "slug": "anterior-plagiocephaly",
        "name": "Anterior flat head syndrome",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anterior-plagiocephaly"
      },
      {
        "slug": "bilateral-cryptorchidism",
        "name": "Bilateral cryptorchidism",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bilateral-cryptorchidism"
      },
      {
        "slug": "occipital-encephalocele",
        "name": "Brain tissue sticks out through back of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/occipital-encephalocele"
      },
      {
        "slug": "broad-columella",
        "name": "Broad columella",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/broad-columella"
      },
      {
        "slug": "brachycephaly",
        "name": "Broad head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brachycephaly"
      },
      {
        "slug": "broad-nasal-tip",
        "name": "Broad nasal tip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/broad-nasal-tip"
      },
      {
        "slug": "broad-philtrum",
        "name": "Broad philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/broad-philtrum"
      },
      {
        "slug": "broad-thumb",
        "name": "Broad thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/broad-thumb"
      },
      {
        "slug": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "cleft-lip",
        "name": "Cleft lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cleft-lip"
      },
      {
        "slug": "bifid-nose",
        "name": "Cleft nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bifid-nose"
      },
      {
        "slug": "bifid-nasal-tip",
        "name": "Cleft nasal tip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bifid-nasal-tip"
      },
      {
        "slug": "cleft-ala-nasi",
        "name": "Cleft nostril",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cleft-ala-nasi"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "conical-tooth",
        "name": "Cone shaped tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/conical-tooth"
      },
      {
        "slug": "congenital-craniofacial-dysostosis",
        "name": "Congenital craniofacial dysostosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/congenital-craniofacial-dysostosis"
      },
      {
        "slug": "telecanthus",
        "name": "Corners of eye widely separated",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/telecanthus"
      },
      {
        "slug": "coronal-craniosynostosis",
        "name": "Coronal craniosynostosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/coronal-craniosynostosis"
      },
      {
        "slug": "calvarial-skull-defect",
        "name": "Cranial defect",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/calvarial-skull-defect"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "hypohidrosis",
        "name": "Decreased ability to sweat",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypohidrosis"
      },
      {
        "slug": "hypogonadism",
        "name": "Decreased activity of gonads",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypogonadism"
      },
      {
        "slug": "decreased-skull-ossification",
        "name": "Decreased bone formation of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-skull-ossification"
      },
      {
        "slug": "decreased-lacrimation",
        "name": "Decreased tear secretion",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-lacrimation"
      },
      {
        "slug": "craniosynostosis",
        "name": "Deformity of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/craniosynostosis"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "depressed-nasal-tip",
        "name": "Depressed nasal tip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-tip"
      },
      {
        "slug": "downturned-corners-of-mouth",
        "name": "Downturned corners of mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/downturned-corners-of-mouth"
      },
      {
        "slug": "encephalocele",
        "name": "Encephalocele",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/encephalocele"
      },
      {
        "slug": "encephalomalacia",
        "name": "Encephalomalacia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/encephalomalacia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "fine-hair",
        "name": "Fine hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fine-hair"
      },
      {
        "slug": "depressed-nasal-ridge",
        "name": "Flat nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/depressed-nasal-ridge"
      },
      {
        "slug": "aplasia-cutis-congenita-of-scalp",
        "name": "Focal absence of scalp tissue",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/aplasia-cutis-congenita-of-scalp"
      },
      {
        "slug": "exostoses",
        "name": "Formation of new noncancerous bone on top of existing bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/exostoses"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "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": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "parietal-foramina",
        "name": "Holes in parietal bones",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/parietal-foramina"
      },
      {
        "slug": "horizontal-nystagmus",
        "name": "Horizontal nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/horizontal-nystagmus"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/moderate-intellectual-disability"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "dolichocephaly",
        "name": "Long, narrow head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dolichocephaly"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "nevus",
        "name": "Mole",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nevus"
      },
      {
        "slug": "multiple-exostoses",
        "name": "Multiple exostoses",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/multiple-exostoses"
      },
      {
        "slug": "myelomeningocele",
        "name": "Myelomeningocele",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/myelomeningocele"
      },
      {
        "slug": "blepharophimosis",
        "name": "Narrow opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/blepharophimosis"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "nephroblastoma",
        "name": "Nephroblastoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nephroblastoma"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "prominent-occiput",
        "name": "Prominent back of the head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prominent-occiput"
      },
      {
        "slug": "prominent-forehead",
        "name": "Prominent forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prominent-forehead"
      },
      {
        "slug": "prominent-nasal-bridge",
        "name": "Prominent nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/prominent-nasal-bridge"
      },
      {
        "slug": "increased-intracranial-pressure",
        "name": "Rise in pressure inside skull",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-intracranial-pressure"
      },
      {
        "slug": "rotary-nystagmus",
        "name": "Rotary nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rotary-nystagmus"
      },
      {
        "slug": "scalp-tenderness",
        "name": "Scalp tenderness",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scalp-tenderness"
      },
      {
        "slug": "short-clavicles",
        "name": "Short collarbone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/short-clavicles"
      },
      {
        "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"
        ],
        "frequency": "frequent",
        "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": "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": "sparse-eyebrow",
        "name": "Sparse eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-eyebrow"
      },
      {
        "slug": "sparse-eyelashes",
        "name": "Sparse eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/sparse-eyelashes"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "tessier-number-13-facial-cleft",
        "name": "Tessier number 13 facial cleft",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tessier-number-13-facial-cleft"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "underdeveloped-nasal-alae",
        "name": "Underdeveloped tissue around nostril",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/underdeveloped-nasal-alae"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-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"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      },
      {
        "slug": "venous-malformation",
        "name": "Venous malformation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/venous-malformation"
      },
      {
        "slug": "vertical-nystagmus",
        "name": "Vertical nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vertical-nystagmus"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "wide-nasal-ridge",
        "name": "Wide nasal ridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wide-nasal-ridge"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "widely-spaced-teeth",
        "name": "Widely spaced teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/widely-spaced-teeth"
      }
    ],
    "related": [
      {
        "slug": "msx2",
        "symbol": "MSX2",
        "name": "msh homeobox 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/msx2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}