{
  "url": "https://dantelabs.com/traits/megalencephaly",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "megalencephaly",
    "id": "HP:0001355",
    "name": "Enlarged brain",
    "label": "Megalencephaly",
    "definition": "Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).",
    "synonyms": [
      "Macrencephaly"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-cerebral-morphology",
        "name": "Abnormal cerebral morphology",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "hemimegalencephaly",
        "name": "Hemimegalencephaly",
        "genes": 15,
        "url": "https://dantelabs.com/traits/hemimegalencephaly"
      }
    ],
    "genes": [
      {
        "slug": "ccnd2",
        "symbol": "CCND2",
        "hgnc": "HGNC:1583",
        "name": "cyclin D2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ccnd2"
      },
      {
        "slug": "hepacam",
        "symbol": "HEPACAM",
        "hgnc": "HGNC:26361",
        "name": "hepatic and glial cell adhesion molecule",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/hepacam"
      },
      {
        "slug": "mlc1",
        "symbol": "MLC1",
        "hgnc": "HGNC:17082",
        "name": "modulator of VRAC current 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mlc1"
      },
      {
        "slug": "mycn",
        "symbol": "MYCN",
        "hgnc": "HGNC:7559",
        "name": "MYCN proto-oncogene, bHLH transcription factor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mycn"
      },
      {
        "slug": "akt3",
        "symbol": "AKT3",
        "hgnc": "HGNC:393",
        "name": "AKT serine/threonine kinase 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/akt3"
      },
      {
        "slug": "mtor",
        "symbol": "MTOR",
        "hgnc": "HGNC:3942",
        "name": "mechanistic target of rapamycin kinase",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mtor"
      },
      {
        "slug": "pik3r2",
        "symbol": "PIK3R2",
        "hgnc": "HGNC:8980",
        "name": "phosphoinositide-3-kinase regulatory subunit 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pik3r2"
      },
      {
        "slug": "strada",
        "symbol": "STRADA",
        "hgnc": "HGNC:30172",
        "name": "STE20 related adaptor alpha",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/strada"
      },
      {
        "slug": "eif2b5",
        "symbol": "EIF2B5",
        "hgnc": "HGNC:3261",
        "name": "eukaryotic translation initiation factor 2B subunit epsilon",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eif2b5"
      },
      {
        "slug": "herc1",
        "symbol": "HERC1",
        "hgnc": "HGNC:4867",
        "name": "HECT and RLD domain containing E3 ubiquitin protein ligase family member 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/herc1"
      },
      {
        "slug": "aspa",
        "symbol": "ASPA",
        "hgnc": "HGNC:756",
        "name": "aspartoacylase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aspa"
      },
      {
        "slug": "cdon",
        "symbol": "CDON",
        "hgnc": "HGNC:17104",
        "name": "cell adhesion associated, oncogene regulated",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdon"
      },
      {
        "slug": "cripto",
        "symbol": "CRIPTO",
        "hgnc": "HGNC:11701",
        "name": "cripto, EGF-CFC family member",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cripto"
      },
      {
        "slug": "disp1",
        "symbol": "DISP1",
        "hgnc": "HGNC:19711",
        "name": "dispatched RND transporter family member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/disp1"
      },
      {
        "slug": "dll1",
        "symbol": "DLL1",
        "hgnc": "HGNC:2908",
        "name": "delta like canonical Notch ligand 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dll1"
      },
      {
        "slug": "dot1l",
        "symbol": "DOT1L",
        "hgnc": "HGNC:24948",
        "name": "DOT1 like histone lysine methyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dot1l"
      },
      {
        "slug": "fgf8",
        "symbol": "FGF8",
        "hgnc": "HGNC:3686",
        "name": "fibroblast growth factor 8",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgf8"
      },
      {
        "slug": "fgfr3",
        "symbol": "FGFR3",
        "hgnc": "HGNC:3690",
        "name": "fibroblast growth factor receptor 3",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fgfr3"
      },
      {
        "slug": "foxh1",
        "symbol": "FOXH1",
        "hgnc": "HGNC:3814",
        "name": "forkhead box H1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxh1"
      },
      {
        "slug": "gas1",
        "symbol": "GAS1",
        "hgnc": "HGNC:4165",
        "name": "growth arrest specific 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gas1"
      },
      {
        "slug": "gli2",
        "symbol": "GLI2",
        "hgnc": "HGNC:4318",
        "name": "GLI family zinc finger 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gli2"
      },
      {
        "slug": "nodal",
        "symbol": "NODAL",
        "hgnc": "HGNC:7865",
        "name": "nodal growth differentiation factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nodal"
      },
      {
        "slug": "ptch1",
        "symbol": "PTCH1",
        "hgnc": "HGNC:9585",
        "name": "patched 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptch1"
      },
      {
        "slug": "shh",
        "symbol": "SHH",
        "hgnc": "HGNC:10848",
        "name": "sonic hedgehog signaling molecule",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/shh"
      },
      {
        "slug": "six3",
        "symbol": "SIX3",
        "hgnc": "HGNC:10889",
        "name": "SIX homeobox 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/six3"
      },
      {
        "slug": "smo",
        "symbol": "SMO",
        "hgnc": "HGNC:11119",
        "name": "smoothened, frizzled class receptor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smo"
      },
      {
        "slug": "stil",
        "symbol": "STIL",
        "hgnc": "HGNC:10879",
        "name": "STIL centriolar assembly protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stil"
      },
      {
        "slug": "tgif1",
        "symbol": "TGIF1",
        "hgnc": "HGNC:11776",
        "name": "TGFB induced factor homeobox 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgif1"
      },
      {
        "slug": "zic2",
        "symbol": "ZIC2",
        "hgnc": "HGNC:12873",
        "name": "Zic family zinc finger 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zic2"
      },
      {
        "slug": "sms",
        "symbol": "SMS",
        "hgnc": "HGNC:11123",
        "name": "spermine synthase",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sms"
      },
      {
        "slug": "cradd",
        "symbol": "CRADD",
        "hgnc": "HGNC:2340",
        "name": "CARD and death domain containing adaptor protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cradd"
      },
      {
        "slug": "fgfr2",
        "symbol": "FGFR2",
        "hgnc": "HGNC:3689",
        "name": "fibroblast growth factor receptor 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr2"
      },
      {
        "slug": "pik3ca",
        "symbol": "PIK3CA",
        "hgnc": "HGNC:8975",
        "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3ca"
      },
      {
        "slug": "rab39b",
        "symbol": "RAB39B",
        "hgnc": "HGNC:16499",
        "name": "RAB39B, member RAS oncogene family",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rab39b"
      },
      {
        "slug": "tbc1d7",
        "symbol": "TBC1D7",
        "hgnc": "HGNC:21066",
        "name": "TBC1 domain family member 7",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbc1d7"
      }
    ]
  }
}