{
  "url": "https://dantelabs.com/traits/scaphocephaly",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "scaphocephaly",
    "id": "HP:0030799",
    "name": "Scaphocephaly",
    "definition": "Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.",
    "synonyms": [],
    "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": "dolichocephaly",
        "name": "Long, narrow head",
        "url": "https://dantelabs.com/traits/dolichocephaly"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "atp6v0a2",
        "symbol": "ATP6V0A2",
        "hgnc": "HGNC:18481",
        "name": "ATPase H+ transporting V0 subunit a2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v0a2"
      },
      {
        "slug": "dph1",
        "symbol": "DPH1",
        "hgnc": "HGNC:3003",
        "name": "diphthamide biosynthesis 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dph1"
      },
      {
        "slug": "il6st",
        "symbol": "IL6ST",
        "hgnc": "HGNC:6021",
        "name": "interleukin 6 cytokine family signal transducer",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il6st"
      },
      {
        "slug": "ryr1",
        "symbol": "RYR1",
        "hgnc": "HGNC:10483",
        "name": "ryanodine receptor 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ryr1"
      },
      {
        "slug": "scarf2",
        "symbol": "SCARF2",
        "hgnc": "HGNC:19869",
        "name": "scavenger receptor class F member 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scarf2"
      },
      {
        "slug": "scn4a",
        "symbol": "SCN4A",
        "hgnc": "HGNC:10591",
        "name": "sodium voltage-gated channel alpha subunit 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn4a"
      },
      {
        "slug": "spout1",
        "symbol": "SPOUT1",
        "hgnc": "HGNC:26933",
        "name": "SPOUT domain containing methyltransferase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spout1"
      },
      {
        "slug": "hsd17b4",
        "symbol": "HSD17B4",
        "hgnc": "HGNC:5213",
        "name": "hydroxysteroid 17-beta dehydrogenase 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hsd17b4"
      },
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "hgnc": "HGNC:28287",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg14"
      },
      {
        "slug": "extl3",
        "symbol": "EXTL3",
        "hgnc": "HGNC:3518",
        "name": "exostosin like glycosyltransferase 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/extl3"
      },
      {
        "slug": "ift43",
        "symbol": "IFT43",
        "hgnc": "HGNC:29669",
        "name": "intraflagellar transport 43",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift43"
      },
      {
        "slug": "kptn",
        "symbol": "KPTN",
        "hgnc": "HGNC:6404",
        "name": "kaptin, actin binding protein",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kptn"
      },
      {
        "slug": "tbc1d7",
        "symbol": "TBC1D7",
        "hgnc": "HGNC:21066",
        "name": "TBC1 domain family member 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbc1d7"
      },
      {
        "slug": "traip",
        "symbol": "TRAIP",
        "hgnc": "HGNC:30764",
        "name": "TRAF interacting protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/traip"
      },
      {
        "slug": "arcn1",
        "symbol": "ARCN1",
        "hgnc": "HGNC:649",
        "name": "archain 1 coat protein complex I subunit delta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arcn1"
      },
      {
        "slug": "asxl3",
        "symbol": "ASXL3",
        "hgnc": "HGNC:29357",
        "name": "ASXL transcriptional regulator 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/asxl3"
      },
      {
        "slug": "col25a1",
        "symbol": "COL25A1",
        "hgnc": "HGNC:18603",
        "name": "collagen type XXV alpha 1 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col25a1"
      },
      {
        "slug": "dph2",
        "symbol": "DPH2",
        "hgnc": "HGNC:3004",
        "name": "diphthamide biosynthesis 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dph2"
      },
      {
        "slug": "ergic1",
        "symbol": "ERGIC1",
        "hgnc": "HGNC:29205",
        "name": "endoplasmic reticulum-golgi intermediate compartment 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ergic1"
      },
      {
        "slug": "ift140",
        "symbol": "IFT140",
        "hgnc": "HGNC:29077",
        "name": "intraflagellar transport 140",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift140"
      },
      {
        "slug": "il11ra",
        "symbol": "IL11RA",
        "hgnc": "HGNC:5967",
        "name": "interleukin 11 receptor subunit alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il11ra"
      },
      {
        "slug": "kcnj2",
        "symbol": "KCNJ2",
        "hgnc": "HGNC:6263",
        "name": "potassium inwardly rectifying channel subfamily J member 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnj2"
      },
      {
        "slug": "kcnj5",
        "symbol": "KCNJ5",
        "hgnc": "HGNC:6266",
        "name": "potassium inwardly rectifying channel subfamily J member 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnj5"
      },
      {
        "slug": "kif15",
        "symbol": "KIF15",
        "hgnc": "HGNC:17273",
        "name": "kinesin family member 15",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif15"
      },
      {
        "slug": "nfix",
        "symbol": "NFIX",
        "hgnc": "HGNC:7788",
        "name": "nuclear factor I X",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nfix"
      },
      {
        "slug": "prim1",
        "symbol": "PRIM1",
        "hgnc": "HGNC:9369",
        "name": "DNA primase subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prim1"
      },
      {
        "slug": "rfx7",
        "symbol": "RFX7",
        "hgnc": "HGNC:25777",
        "name": "regulatory factor X7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfx7"
      },
      {
        "slug": "scyl2",
        "symbol": "SCYL2",
        "hgnc": "HGNC:19286",
        "name": "SCY1 like pseudokinase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scyl2"
      },
      {
        "slug": "sox6",
        "symbol": "SOX6",
        "hgnc": "HGNC:16421",
        "name": "SRY-box transcription factor 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox6"
      },
      {
        "slug": "ago2",
        "symbol": "AGO2",
        "hgnc": "HGNC:3263",
        "name": "argonaute RISC catalytic component 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ago2"
      },
      {
        "slug": "gli3",
        "symbol": "GLI3",
        "hgnc": "HGNC:4319",
        "name": "GLI family zinc finger 3",
        "frequency": "very-rare",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gli3"
      },
      {
        "slug": "rnu4-2",
        "symbol": "RNU4-2",
        "hgnc": "HGNC:10193",
        "name": "RNA, U4 small nuclear 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu4-2"
      },
      {
        "slug": "cntn1",
        "symbol": "CNTN1",
        "hgnc": "HGNC:2171",
        "name": "contactin 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cntn1"
      },
      {
        "slug": "fbn1",
        "symbol": "FBN1",
        "hgnc": "HGNC:3603",
        "name": "fibrillin 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbn1"
      },
      {
        "slug": "fbn2",
        "symbol": "FBN2",
        "hgnc": "HGNC:3604",
        "name": "fibrillin 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbn2"
      },
      {
        "slug": "ids",
        "symbol": "IDS",
        "hgnc": "HGNC:5389",
        "name": "iduronate 2-sulfatase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ids"
      },
      {
        "slug": "ift122",
        "symbol": "IFT122",
        "hgnc": "HGNC:13556",
        "name": "intraflagellar transport 122",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift122"
      },
      {
        "slug": "kras",
        "symbol": "KRAS",
        "hgnc": "HGNC:6407",
        "name": "KRas proto-oncogene, GTPase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kras"
      },
      {
        "slug": "pex19",
        "symbol": "PEX19",
        "hgnc": "HGNC:9713",
        "name": "peroxisomal biogenesis factor 19",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex19"
      },
      {
        "slug": "thumpd1",
        "symbol": "THUMPD1",
        "hgnc": "HGNC:23807",
        "name": "THUMP domain 1 NAT10 acetyltransferase adaptor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/thumpd1"
      },
      {
        "slug": "twist1",
        "symbol": "TWIST1",
        "hgnc": "HGNC:12428",
        "name": "twist family bHLH transcription factor 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/twist1"
      }
    ]
  }
}