{
  "url": "https://dantelabs.com/traits/abnormal-skull-morphology",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "abnormal-skull-morphology",
    "id": "HP:0000929",
    "name": "Abnormality of the skull",
    "label": "Abnormal skull morphology",
    "definition": "An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.",
    "synonyms": [
      "Abnormality of the skull bones"
    ],
    "systems": [
      {
        "slug": "abnormality-of-head-or-neck",
        "name": "Abnormality of head or neck",
        "url": "https://dantelabs.com/traits/abnormality-of-head-or-neck"
      },
      {
        "slug": "abnormality-of-the-musculoskeletal-system",
        "name": "Abnormality of the musculoskeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-axial-skeleton-morphology",
        "name": "Abnormal axial skeleton morphology",
        "url": "https://dantelabs.com/traits/abnormal-axial-skeleton-morphology"
      },
      {
        "slug": "abnormality-of-the-head",
        "name": "Abnormality of the head",
        "url": "https://dantelabs.com/traits/abnormality-of-the-head"
      }
    ],
    "narrower": [
      {
        "slug": "abnormal-calvaria-morphology",
        "name": "Abnormality of cranium",
        "genes": 17,
        "url": "https://dantelabs.com/traits/abnormal-calvaria-morphology"
      },
      {
        "slug": "abnormal-cranial-suture-fontanelle-morphology",
        "name": "Abnormal cranial suture/fontanelle morphology",
        "genes": 6,
        "url": "https://dantelabs.com/traits/abnormal-cranial-suture-fontanelle-morphology"
      },
      {
        "slug": "abnormal-sella-turcica-morphology",
        "name": "Abnormal sella turcica morphology",
        "genes": 5,
        "url": "https://dantelabs.com/traits/abnormal-sella-turcica-morphology"
      },
      {
        "slug": "abnormal-facial-skeleton-morphology",
        "name": "Abnormality of facial bones",
        "genes": 3,
        "url": "https://dantelabs.com/traits/abnormal-facial-skeleton-morphology"
      },
      {
        "slug": "abnormal-skull-base-morphology",
        "name": "Abnormality of the skull base",
        "genes": 3,
        "url": "https://dantelabs.com/traits/abnormal-skull-base-morphology"
      },
      {
        "slug": "abnormal-temporal-bone-morphology",
        "name": "Abnormal temporal bone morphology",
        "genes": 2,
        "url": "https://dantelabs.com/traits/abnormal-temporal-bone-morphology"
      },
      {
        "slug": "craniofacial-dysostosis",
        "name": "Craniofacial dysostosis",
        "genes": 2,
        "url": "https://dantelabs.com/traits/craniofacial-dysostosis"
      },
      {
        "slug": "abnormal-mastoid-morphology",
        "name": "Abnormal mastoid morphology",
        "genes": 1,
        "url": "https://dantelabs.com/traits/abnormal-mastoid-morphology"
      },
      {
        "slug": "abnormal-foramen-magnum-morphology",
        "name": "Abnormal foramen magnum morphology",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-foramen-magnum-morphology"
      },
      {
        "slug": "abnormal-morphology-of-bony-orbit-of-skull",
        "name": "Abnormal morphology of bony orbit of skull",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-morphology-of-bony-orbit-of-skull"
      },
      {
        "slug": "abnormality-of-skull-ossification",
        "name": "Abnormality of bone formation of cranium",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormality-of-skull-ossification"
      },
      {
        "slug": "abnormality-of-skull-size",
        "name": "Abnormality of skull size",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormality-of-skull-size"
      },
      {
        "slug": "aplasia-hypoplasia-involving-bones-of-the-skull",
        "name": "Aplasia/Hypoplasia involving bones of the skull",
        "genes": 0,
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-involving-bones-of-the-skull"
      },
      {
        "slug": "cephalocele",
        "name": "Cephalocele",
        "genes": 0,
        "url": "https://dantelabs.com/traits/cephalocele"
      }
    ],
    "genes": [
      {
        "slug": "antxr2",
        "symbol": "ANTXR2",
        "hgnc": "HGNC:21732",
        "name": "ANTXR cell adhesion molecule 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/antxr2"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "hgnc": "HGNC:869",
        "name": "ATPase copper transporting alpha",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp7a"
      },
      {
        "slug": "fgfr2",
        "symbol": "FGFR2",
        "hgnc": "HGNC:3689",
        "name": "fibroblast growth factor receptor 2",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/fgfr2"
      },
      {
        "slug": "fgfr3",
        "symbol": "FGFR3",
        "hgnc": "HGNC:3690",
        "name": "fibroblast growth factor receptor 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr3"
      },
      {
        "slug": "hpgd",
        "symbol": "HPGD",
        "hgnc": "HGNC:5154",
        "name": "15-hydroxyprostaglandin dehydrogenase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hpgd"
      },
      {
        "slug": "megf8",
        "symbol": "MEGF8",
        "hgnc": "HGNC:3233",
        "name": "multiple EGF like domains 8",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/megf8"
      },
      {
        "slug": "notch2",
        "symbol": "NOTCH2",
        "hgnc": "HGNC:7882",
        "name": "notch receptor 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch2"
      },
      {
        "slug": "rab23",
        "symbol": "RAB23",
        "hgnc": "HGNC:14263",
        "name": "RAB23, member RAS oncogene family",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rab23"
      },
      {
        "slug": "tgfb1",
        "symbol": "TGFB1",
        "hgnc": "HGNC:11766",
        "name": "transforming growth factor beta 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgfb1"
      },
      {
        "slug": "twist1",
        "symbol": "TWIST1",
        "hgnc": "HGNC:12428",
        "name": "twist family bHLH transcription factor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/twist1"
      },
      {
        "slug": "akt3",
        "symbol": "AKT3",
        "hgnc": "HGNC:393",
        "name": "AKT serine/threonine kinase 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/akt3"
      },
      {
        "slug": "arvcf",
        "symbol": "ARVCF",
        "hgnc": "HGNC:728",
        "name": "ARVCF delta catenin family member",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arvcf"
      },
      {
        "slug": "comt",
        "symbol": "COMT",
        "hgnc": "HGNC:2228",
        "name": "catechol-O-methyltransferase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/comt"
      },
      {
        "slug": "ebp",
        "symbol": "EBP",
        "hgnc": "HGNC:3133",
        "name": "EBP cholestenol delta-isomerase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ebp"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "hgnc": "HGNC:3688",
        "name": "fibroblast growth factor receptor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr1"
      },
      {
        "slug": "gp1bb",
        "symbol": "GP1BB",
        "hgnc": "HGNC:4440",
        "name": "glycoprotein Ib platelet subunit beta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gp1bb"
      },
      {
        "slug": "hira",
        "symbol": "HIRA",
        "hgnc": "HGNC:4916",
        "name": "histone cell cycle regulator",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hira"
      },
      {
        "slug": "jmjd1c",
        "symbol": "JMJD1C",
        "hgnc": "HGNC:12313",
        "name": "jumonji domain containing 1C",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jmjd1c"
      },
      {
        "slug": "kras",
        "symbol": "KRAS",
        "hgnc": "HGNC:6407",
        "name": "KRas proto-oncogene, GTPase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kras"
      },
      {
        "slug": "mthfr",
        "symbol": "MTHFR",
        "hgnc": "HGNC:7436",
        "name": "methylenetetrahydrofolate reductase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mthfr"
      },
      {
        "slug": "mtor",
        "symbol": "MTOR",
        "hgnc": "HGNC:3942",
        "name": "mechanistic target of rapamycin kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mtor"
      },
      {
        "slug": "notch3",
        "symbol": "NOTCH3",
        "hgnc": "HGNC:7883",
        "name": "notch receptor 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch3"
      },
      {
        "slug": "ofd1",
        "symbol": "OFD1",
        "hgnc": "HGNC:2567",
        "name": "OFD1 centriole and centriolar satellite protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ofd1"
      },
      {
        "slug": "pdgfrb",
        "symbol": "PDGFRB",
        "hgnc": "HGNC:8804",
        "name": "platelet derived growth factor receptor beta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdgfrb"
      },
      {
        "slug": "pik3ca",
        "symbol": "PIK3CA",
        "hgnc": "HGNC:8975",
        "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pik3ca"
      },
      {
        "slug": "rreb1",
        "symbol": "RREB1",
        "hgnc": "HGNC:10449",
        "name": "ras responsive element binding protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rreb1"
      },
      {
        "slug": "sec24c",
        "symbol": "SEC24C",
        "hgnc": "HGNC:10705",
        "name": "SEC24 homolog C, COPII component",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sec24c"
      },
      {
        "slug": "slc25a24",
        "symbol": "SLC25A24",
        "hgnc": "HGNC:20662",
        "name": "solute carrier family 25 member 24",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc25a24"
      },
      {
        "slug": "tbx1",
        "symbol": "TBX1",
        "hgnc": "HGNC:11592",
        "name": "T-box transcription factor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbx1"
      },
      {
        "slug": "ufd1",
        "symbol": "UFD1",
        "hgnc": "HGNC:12520",
        "name": "ubiquitin recognition factor in ER associated degradation 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ufd1"
      },
      {
        "slug": "vangl2",
        "symbol": "VANGL2",
        "hgnc": "HGNC:15511",
        "name": "VANGL planar cell polarity protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vangl2"
      },
      {
        "slug": "aggf1",
        "symbol": "AGGF1",
        "hgnc": "HGNC:24684",
        "name": "angiogenic factor with G-patch and FHA domains 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aggf1"
      },
      {
        "slug": "bub1",
        "symbol": "BUB1",
        "hgnc": "HGNC:1148",
        "name": "BUB1 mitotic checkpoint serine/threonine kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bub1"
      },
      {
        "slug": "bub1b",
        "symbol": "BUB1B",
        "hgnc": "HGNC:1149",
        "name": "BUB1 mitotic checkpoint serine/threonine kinase B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bub1b"
      },
      {
        "slug": "bub3",
        "symbol": "BUB3",
        "hgnc": "HGNC:1151",
        "name": "BUB3 mitotic checkpoint protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bub3"
      },
      {
        "slug": "cep57",
        "symbol": "CEP57",
        "hgnc": "HGNC:30794",
        "name": "centrosomal protein 57",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep57"
      },
      {
        "slug": "chd6",
        "symbol": "CHD6",
        "hgnc": "HGNC:19057",
        "name": "chromodomain helicase DNA binding protein 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chd6"
      },
      {
        "slug": "efemp2",
        "symbol": "EFEMP2",
        "hgnc": "HGNC:3219",
        "name": "EGF-like fibulin extracellular matrix protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/efemp2"
      },
      {
        "slug": "fbln5",
        "symbol": "FBLN5",
        "hgnc": "HGNC:3602",
        "name": "fibulin 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbln5"
      },
      {
        "slug": "fermt1",
        "symbol": "FERMT1",
        "hgnc": "HGNC:15889",
        "name": "FERM domain containing kindlin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fermt1"
      },
      {
        "slug": "ghr",
        "symbol": "GHR",
        "hgnc": "HGNC:4263",
        "name": "growth hormone receptor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ghr"
      },
      {
        "slug": "ltbp1",
        "symbol": "LTBP1",
        "hgnc": "HGNC:6714",
        "name": "latent transforming growth factor beta binding protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ltbp1"
      },
      {
        "slug": "trip13",
        "symbol": "TRIP13",
        "hgnc": "HGNC:12307",
        "name": "thyroid hormone receptor interactor 13",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trip13"
      }
    ]
  }
}