{
  "url": "https://dantelabs.com/traits/relative-macrocephaly",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "relative-macrocephaly",
    "id": "HP:0004482",
    "name": "Relatively large head",
    "label": "Relative macrocephaly",
    "definition": "A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.",
    "synonyms": [
      "Disproportionately large head",
      "Macrocephaly, relative"
    ],
    "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": "acan",
        "symbol": "ACAN",
        "hgnc": "HGNC:319",
        "name": "aggrecan",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/acan"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "hgnc": "HGNC:16066",
        "name": "alkaline ceramidase 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acer3"
      },
      {
        "slug": "apc2",
        "symbol": "APC2",
        "hgnc": "HGNC:24036",
        "name": "APC regulator of Wnt signaling pathway 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/apc2"
      },
      {
        "slug": "axin1",
        "symbol": "AXIN1",
        "hgnc": "HGNC:903",
        "name": "axin 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/axin1"
      },
      {
        "slug": "bgn",
        "symbol": "BGN",
        "hgnc": "HGNC:1044",
        "name": "biglycan",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bgn"
      },
      {
        "slug": "ccdc22",
        "symbol": "CCDC22",
        "hgnc": "HGNC:28909",
        "name": "CCC complex scaffolding subunit CCDC22",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccdc22"
      },
      {
        "slug": "cilk1",
        "symbol": "CILK1",
        "hgnc": "HGNC:21219",
        "name": "ciliogenesis associated kinase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cilk1"
      },
      {
        "slug": "cul7",
        "symbol": "CUL7",
        "hgnc": "HGNC:21024",
        "name": "cullin 7",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cul7"
      },
      {
        "slug": "eif4a2",
        "symbol": "EIF4A2",
        "hgnc": "HGNC:3284",
        "name": "eukaryotic translation initiation factor 4A2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eif4a2"
      },
      {
        "slug": "hmga2",
        "symbol": "HMGA2",
        "hgnc": "HGNC:5009",
        "name": "high mobility group AT-hook 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hmga2"
      },
      {
        "slug": "ift81",
        "symbol": "IFT81",
        "hgnc": "HGNC:14313",
        "name": "intraflagellar transport 81",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift81"
      },
      {
        "slug": "igf2",
        "symbol": "IGF2",
        "hgnc": "HGNC:5466",
        "name": "insulin like growth factor 2",
        "frequency": "obligate",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/igf2"
      },
      {
        "slug": "kdm6b",
        "symbol": "KDM6B",
        "hgnc": "HGNC:29012",
        "name": "lysine demethylase 6B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm6b"
      },
      {
        "slug": "kics2",
        "symbol": "KICS2",
        "hgnc": "HGNC:26517",
        "name": "KICSTOR subunit 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kics2"
      },
      {
        "slug": "mark2",
        "symbol": "MARK2",
        "hgnc": "HGNC:3332",
        "name": "microtubule affinity regulating kinase 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mark2"
      },
      {
        "slug": "mras",
        "symbol": "MRAS",
        "hgnc": "HGNC:7227",
        "name": "muscle RAS oncogene homolog",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mras"
      },
      {
        "slug": "rnu5b-1",
        "symbol": "RNU5B-1",
        "hgnc": "HGNC:10212",
        "name": "RNA, U5B small nuclear 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu5b-1"
      },
      {
        "slug": "serpinh1",
        "symbol": "SERPINH1",
        "hgnc": "HGNC:1546",
        "name": "serpin family H member 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/serpinh1"
      },
      {
        "slug": "shoc2",
        "symbol": "SHOC2",
        "hgnc": "HGNC:15454",
        "name": "SHOC2 leucine rich repeat scaffold protein",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/shoc2"
      },
      {
        "slug": "son",
        "symbol": "SON",
        "hgnc": "HGNC:11183",
        "name": "SON DNA and RNA binding protein",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/son"
      },
      {
        "slug": "spout1",
        "symbol": "SPOUT1",
        "hgnc": "HGNC:26933",
        "name": "SPOUT domain containing methyltransferase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spout1"
      },
      {
        "slug": "tnfrsf11b",
        "symbol": "TNFRSF11B",
        "hgnc": "HGNC:11909",
        "name": "TNF receptor superfamily member 11b",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnfrsf11b"
      },
      {
        "slug": "vps35l",
        "symbol": "VPS35L",
        "hgnc": "HGNC:24641",
        "name": "VPS35 endosomal protein sorting factor like",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps35l"
      },
      {
        "slug": "cdkn1c",
        "symbol": "CDKN1C",
        "hgnc": "HGNC:1786",
        "name": "cyclin dependent kinase inhibitor 1C",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdkn1c"
      },
      {
        "slug": "itch",
        "symbol": "ITCH",
        "hgnc": "HGNC:13890",
        "name": "itchy E3 ubiquitin protein ligase",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/itch"
      },
      {
        "slug": "kras",
        "symbol": "KRAS",
        "hgnc": "HGNC:6407",
        "name": "KRas proto-oncogene, GTPase",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kras"
      },
      {
        "slug": "nono",
        "symbol": "NONO",
        "hgnc": "HGNC:7871",
        "name": "non-POU domain containing octamer binding",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nono"
      },
      {
        "slug": "plag1",
        "symbol": "PLAG1",
        "hgnc": "HGNC:9045",
        "name": "PLAG1 zinc finger",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plag1"
      },
      {
        "slug": "polr3a",
        "symbol": "POLR3A",
        "hgnc": "HGNC:30074",
        "name": "RNA polymerase III subunit A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polr3a"
      },
      {
        "slug": "ahdc1",
        "symbol": "AHDC1",
        "hgnc": "HGNC:25230",
        "name": "AT-hook DNA binding motif containing 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ahdc1"
      },
      {
        "slug": "apc",
        "symbol": "APC",
        "hgnc": "HGNC:583",
        "name": "APC regulator of Wnt signaling pathway",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/apc"
      },
      {
        "slug": "cep120",
        "symbol": "CEP120",
        "hgnc": "HGNC:26690",
        "name": "centrosomal protein 120",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep120"
      },
      {
        "slug": "dock3",
        "symbol": "DOCK3",
        "hgnc": "HGNC:2989",
        "name": "dedicator of cytokinesis 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dock3"
      },
      {
        "slug": "fgd1",
        "symbol": "FGD1",
        "hgnc": "HGNC:3663",
        "name": "FYVE, RhoGEF and PH domain containing 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgd1"
      },
      {
        "slug": "grb10",
        "symbol": "GRB10",
        "hgnc": "HGNC:4564",
        "name": "growth factor receptor bound protein 10",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grb10"
      },
      {
        "slug": "h19",
        "symbol": "H19",
        "hgnc": "HGNC:4713",
        "name": "H19 imprinted maternally expressed transcript",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/h19"
      },
      {
        "slug": "inppl1",
        "symbol": "INPPL1",
        "hgnc": "HGNC:6080",
        "name": "inositol polyphosphate phosphatase like 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/inppl1"
      },
      {
        "slug": "lama5",
        "symbol": "LAMA5",
        "hgnc": "HGNC:6485",
        "name": "laminin subunit alpha 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lama5"
      },
      {
        "slug": "lbr",
        "symbol": "LBR",
        "hgnc": "HGNC:6518",
        "name": "lamin B receptor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lbr"
      },
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "hgnc": "HGNC:6636",
        "name": "lamin A/C",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmna"
      },
      {
        "slug": "lztr1",
        "symbol": "LZTR1",
        "hgnc": "HGNC:6742",
        "name": "leucine zipper like post translational regulator 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lztr1"
      },
      {
        "slug": "med12",
        "symbol": "MED12",
        "hgnc": "HGNC:11957",
        "name": "mediator complex subunit 12",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/med12"
      },
      {
        "slug": "mitf",
        "symbol": "MITF",
        "hgnc": "HGNC:7105",
        "name": "melanocyte inducing transcription factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mitf"
      },
      {
        "slug": "nxn",
        "symbol": "NXN",
        "hgnc": "HGNC:18008",
        "name": "nucleoredoxin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nxn"
      },
      {
        "slug": "polr1a",
        "symbol": "POLR1A",
        "hgnc": "HGNC:17264",
        "name": "RNA polymerase I subunit A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polr1a"
      },
      {
        "slug": "ppp1cb",
        "symbol": "PPP1CB",
        "hgnc": "HGNC:9282",
        "name": "protein phosphatase 1 catalytic subunit beta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppp1cb"
      },
      {
        "slug": "rit1",
        "symbol": "RIT1",
        "hgnc": "HGNC:10023",
        "name": "Ras like without CAAX 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rit1"
      },
      {
        "slug": "snx14",
        "symbol": "SNX14",
        "hgnc": "HGNC:14977",
        "name": "sorting nexin 14",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/snx14"
      },
      {
        "slug": "sox9",
        "symbol": "SOX9",
        "hgnc": "HGNC:11204",
        "name": "SRY-box transcription factor 9",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox9"
      },
      {
        "slug": "zmpste24",
        "symbol": "ZMPSTE24",
        "hgnc": "HGNC:12877",
        "name": "zinc metallopeptidase STE24",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zmpste24"
      },
      {
        "slug": "dhcr24",
        "symbol": "DHCR24",
        "hgnc": "HGNC:2859",
        "name": "24-dehydrocholesterol reductase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhcr24"
      },
      {
        "slug": "dlk1",
        "symbol": "DLK1",
        "hgnc": "HGNC:2907",
        "name": "delta like non-canonical Notch ligand 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dlk1"
      },
      {
        "slug": "dph1",
        "symbol": "DPH1",
        "hgnc": "HGNC:3003",
        "name": "diphthamide biosynthesis 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dph1"
      },
      {
        "slug": "dph2",
        "symbol": "DPH2",
        "hgnc": "HGNC:3004",
        "name": "diphthamide biosynthesis 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dph2"
      },
      {
        "slug": "meg3",
        "symbol": "MEG3",
        "hgnc": "HGNC:14575",
        "name": "maternally expressed 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/meg3"
      },
      {
        "slug": "pole",
        "symbol": "POLE",
        "hgnc": "HGNC:9177",
        "name": "DNA polymerase epsilon, catalytic subunit",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pole"
      },
      {
        "slug": "pop1",
        "symbol": "POP1",
        "hgnc": "HGNC:30129",
        "name": "POP1 ribonuclease P/MRP subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pop1"
      },
      {
        "slug": "rtl1",
        "symbol": "RTL1",
        "hgnc": "HGNC:14665",
        "name": "retrotransposon Gag like 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rtl1"
      },
      {
        "slug": "satb2",
        "symbol": "SATB2",
        "hgnc": "HGNC:21637",
        "name": "SATB homeobox 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/satb2"
      },
      {
        "slug": "tonsl",
        "symbol": "TONSL",
        "hgnc": "HGNC:7801",
        "name": "tonsoku like, DNA repair protein",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tonsl"
      },
      {
        "slug": "usp7",
        "symbol": "USP7",
        "hgnc": "HGNC:12630",
        "name": "ubiquitin specific peptidase 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/usp7"
      },
      {
        "slug": "usp9x",
        "symbol": "USP9X",
        "hgnc": "HGNC:12632",
        "name": "ubiquitin specific peptidase 9 X-linked",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/usp9x"
      },
      {
        "slug": "xylt1",
        "symbol": "XYLT1",
        "hgnc": "HGNC:15516",
        "name": "xylosyltransferase 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/xylt1"
      },
      {
        "slug": "zfx",
        "symbol": "ZFX",
        "hgnc": "HGNC:12869",
        "name": "zinc finger protein X-linked",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zfx"
      },
      {
        "slug": "braf",
        "symbol": "BRAF",
        "hgnc": "HGNC:1097",
        "name": "B-Raf proto-oncogene, serine/threonine kinase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/braf"
      },
      {
        "slug": "cul4b",
        "symbol": "CUL4B",
        "hgnc": "HGNC:2555",
        "name": "cullin 4B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cul4b"
      },
      {
        "slug": "fh",
        "symbol": "FH",
        "hgnc": "HGNC:3700",
        "name": "fumarate hydratase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fh"
      },
      {
        "slug": "ihh",
        "symbol": "IHH",
        "hgnc": "HGNC:5956",
        "name": "Indian hedgehog signaling molecule",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ihh"
      },
      {
        "slug": "map2k1",
        "symbol": "MAP2K1",
        "hgnc": "HGNC:6840",
        "name": "mitogen-activated protein kinase kinase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/map2k1"
      },
      {
        "slug": "map2k2",
        "symbol": "MAP2K2",
        "hgnc": "HGNC:6842",
        "name": "mitogen-activated protein kinase kinase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/map2k2"
      },
      {
        "slug": "nf1",
        "symbol": "NF1",
        "hgnc": "HGNC:7765",
        "name": "neurofibromin 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nf1"
      },
      {
        "slug": "obsl1",
        "symbol": "OBSL1",
        "hgnc": "HGNC:29092",
        "name": "obscurin like cytoskeletal adaptor 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/obsl1"
      },
      {
        "slug": "pcgf2",
        "symbol": "PCGF2",
        "hgnc": "HGNC:12929",
        "name": "polycomb group ring finger 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pcgf2"
      },
      {
        "slug": "ptdss1",
        "symbol": "PTDSS1",
        "hgnc": "HGNC:9587",
        "name": "phosphatidylserine synthase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptdss1"
      },
      {
        "slug": "thra",
        "symbol": "THRA",
        "hgnc": "HGNC:11796",
        "name": "thyroid hormone receptor alpha",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/thra"
      },
      {
        "slug": "trip11",
        "symbol": "TRIP11",
        "hgnc": "HGNC:12305",
        "name": "thyroid hormone receptor interactor 11",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trip11"
      }
    ]
  }
}