{
  "url": "https://dantelabs.com/traits/macrocephaly-at-birth",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "macrocephaly-at-birth",
    "id": "HP:0004488",
    "name": "Big head present at birth",
    "label": "Macrocephaly at birth",
    "definition": "The presence of an abnormally large skull with onset at birth.",
    "synonyms": [
      "Big head present since birth",
      "Big skull present at birth",
      "Big skull present since birth",
      "Congenital large head",
      "Large head present at birth",
      "Large head present since birth",
      "Large skull present at birth",
      "Large skull present since birth",
      "Big cranium present at birth",
      "Big cranium present since birth",
      "Congenital large cranium",
      "Congenital large skull",
      "Congenital macrocephaly",
      "Head circumference large for gestational age",
      "Large cranium present at birth",
      "Large cranium present since birth"
    ],
    "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": "macrocephaly",
        "name": "Big calvaria",
        "url": "https://dantelabs.com/traits/macrocephaly"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "cilk1",
        "symbol": "CILK1",
        "hgnc": "HGNC:21219",
        "name": "ciliogenesis associated kinase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cilk1"
      },
      {
        "slug": "nsd1",
        "symbol": "NSD1",
        "hgnc": "HGNC:14234",
        "name": "nuclear receptor binding SET domain protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nsd1"
      },
      {
        "slug": "bin1",
        "symbol": "BIN1",
        "hgnc": "HGNC:1052",
        "name": "bridging integrator 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bin1"
      },
      {
        "slug": "dnm2",
        "symbol": "DNM2",
        "hgnc": "HGNC:2974",
        "name": "dynamin 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnm2"
      },
      {
        "slug": "mtmr14",
        "symbol": "MTMR14",
        "hgnc": "HGNC:26190",
        "name": "myotubularin related protein 14",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mtmr14"
      },
      {
        "slug": "myf6",
        "symbol": "MYF6",
        "hgnc": "HGNC:7566",
        "name": "myogenic factor 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myf6"
      },
      {
        "slug": "pign",
        "symbol": "PIGN",
        "hgnc": "HGNC:8967",
        "name": "phosphatidylinositol glycan anchor biosynthesis class N",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pign"
      },
      {
        "slug": "ryr1",
        "symbol": "RYR1",
        "hgnc": "HGNC:10483",
        "name": "ryanodine receptor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ryr1"
      },
      {
        "slug": "focad",
        "symbol": "FOCAD",
        "hgnc": "HGNC:23377",
        "name": "focadhesin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/focad"
      },
      {
        "slug": "odc1",
        "symbol": "ODC1",
        "hgnc": "HGNC:8109",
        "name": "ornithine decarboxylase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/odc1"
      },
      {
        "slug": "slc16a2",
        "symbol": "SLC16A2",
        "hgnc": "HGNC:10923",
        "name": "solute carrier family 16 member 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc16a2"
      }
    ]
  }
}