{
  "url": "https://dantelabs.com/traits/colpocephaly",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "colpocephaly",
    "id": "HP:0030048",
    "name": "Colpocephaly",
    "definition": "Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles.",
    "synonyms": [],
    "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-lateral-ventricle-morphology",
        "name": "Abnormal lateral ventricle morphology",
        "url": "https://dantelabs.com/traits/abnormal-lateral-ventricle-morphology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "col4a2",
        "symbol": "COL4A2",
        "hgnc": "HGNC:2203",
        "name": "collagen type IV alpha 2 chain",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col4a2"
      },
      {
        "slug": "esam",
        "symbol": "ESAM",
        "hgnc": "HGNC:17474",
        "name": "endothelial cell adhesion molecule",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/esam"
      },
      {
        "slug": "hnrnph1",
        "symbol": "HNRNPH1",
        "hgnc": "HGNC:5041",
        "name": "heterogeneous nuclear ribonucleoprotein H1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hnrnph1"
      },
      {
        "slug": "nadk2",
        "symbol": "NADK2",
        "hgnc": "HGNC:26404",
        "name": "NAD kinase 2, mitochondrial",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nadk2"
      },
      {
        "slug": "sec31a",
        "symbol": "SEC31A",
        "hgnc": "HGNC:17052",
        "name": "SEC31 homolog A, COPII component",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sec31a"
      },
      {
        "slug": "tmem63b",
        "symbol": "TMEM63B",
        "hgnc": "HGNC:17735",
        "name": "transmembrane protein 63B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem63b"
      },
      {
        "slug": "wsb2",
        "symbol": "WSB2",
        "hgnc": "HGNC:19222",
        "name": "WD repeat and SOCS box containing 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wsb2"
      },
      {
        "slug": "ermard",
        "symbol": "ERMARD",
        "hgnc": "HGNC:21056",
        "name": "ER membrane associated RNA degradation",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ermard"
      },
      {
        "slug": "gpsm2",
        "symbol": "GPSM2",
        "hgnc": "HGNC:29501",
        "name": "G protein signaling modulator 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpsm2"
      },
      {
        "slug": "tuba8",
        "symbol": "TUBA8",
        "hgnc": "HGNC:12410",
        "name": "tubulin alpha 8",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tuba8"
      },
      {
        "slug": "ankrd11",
        "symbol": "ANKRD11",
        "hgnc": "HGNC:21316",
        "name": "ankyrin repeat domain 11",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ankrd11"
      },
      {
        "slug": "arsi",
        "symbol": "ARSI",
        "hgnc": "HGNC:32521",
        "name": "arylsulfatase family member I",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arsi"
      },
      {
        "slug": "dhcr7",
        "symbol": "DHCR7",
        "hgnc": "HGNC:2860",
        "name": "7-dehydrocholesterol reductase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhcr7"
      },
      {
        "slug": "dnm1",
        "symbol": "DNM1",
        "hgnc": "HGNC:2972",
        "name": "dynamin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnm1"
      },
      {
        "slug": "fanci",
        "symbol": "FANCI",
        "hgnc": "HGNC:25568",
        "name": "FA complementation group I",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fanci"
      },
      {
        "slug": "ncapg2",
        "symbol": "NCAPG2",
        "hgnc": "HGNC:21904",
        "name": "non-SMC condensin II complex subunit G2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ncapg2"
      },
      {
        "slug": "nde1",
        "symbol": "NDE1",
        "hgnc": "HGNC:17619",
        "name": "nudE neurodevelopment protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nde1"
      },
      {
        "slug": "srpk3",
        "symbol": "SRPK3",
        "hgnc": "HGNC:11402",
        "name": "SRSF protein kinase 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/srpk3"
      },
      {
        "slug": "cspp1",
        "symbol": "CSPP1",
        "hgnc": "HGNC:26193",
        "name": "centrosome and spindle pole associated protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cspp1"
      },
      {
        "slug": "dhx37",
        "symbol": "DHX37",
        "hgnc": "HGNC:17210",
        "name": "DEAH-box helicase 37",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhx37"
      },
      {
        "slug": "fra10ac1",
        "symbol": "FRA10AC1",
        "hgnc": "HGNC:1162",
        "name": "FRA10A associated CGG repeat 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fra10ac1"
      },
      {
        "slug": "kat6b",
        "symbol": "KAT6B",
        "hgnc": "HGNC:17582",
        "name": "lysine acetyltransferase 6B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kat6b"
      },
      {
        "slug": "kdm1a",
        "symbol": "KDM1A",
        "hgnc": "HGNC:29079",
        "name": "lysine demethylase 1A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm1a"
      },
      {
        "slug": "kiaa0586",
        "symbol": "KIAA0586",
        "hgnc": "HGNC:19960",
        "name": "KIAA0586",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kiaa0586"
      },
      {
        "slug": "kif26a",
        "symbol": "KIF26A",
        "hgnc": "HGNC:20226",
        "name": "kinesin family member 26A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif26a"
      },
      {
        "slug": "nrcam",
        "symbol": "NRCAM",
        "hgnc": "HGNC:7994",
        "name": "neuronal cell adhesion molecule",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nrcam"
      },
      {
        "slug": "pex2",
        "symbol": "PEX2",
        "hgnc": "HGNC:9717",
        "name": "peroxisomal biogenesis factor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex2"
      },
      {
        "slug": "plxna1",
        "symbol": "PLXNA1",
        "hgnc": "HGNC:9099",
        "name": "plexin A1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plxna1"
      },
      {
        "slug": "ppp1r12a",
        "symbol": "PPP1R12A",
        "hgnc": "HGNC:7618",
        "name": "protein phosphatase 1 regulatory subunit 12A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppp1r12a"
      },
      {
        "slug": "rnu4-2",
        "symbol": "RNU4-2",
        "hgnc": "HGNC:10193",
        "name": "RNA, U4 small nuclear 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu4-2"
      },
      {
        "slug": "rnu4atac",
        "symbol": "RNU4ATAC",
        "hgnc": "HGNC:34016",
        "name": "RNA, U4atac small nuclear",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu4atac"
      },
      {
        "slug": "rps6kc1",
        "symbol": "RPS6KC1",
        "hgnc": "HGNC:10439",
        "name": "ribosomal protein S6 kinase C1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps6kc1"
      },
      {
        "slug": "stag2",
        "symbol": "STAG2",
        "hgnc": "HGNC:11355",
        "name": "STAG2 cohesin complex component",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stag2"
      },
      {
        "slug": "znf148",
        "symbol": "ZNF148",
        "hgnc": "HGNC:12933",
        "name": "zinc finger protein 148",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf148"
      },
      {
        "slug": "znf462",
        "symbol": "ZNF462",
        "hgnc": "HGNC:21684",
        "name": "zinc finger protein 462",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf462"
      },
      {
        "slug": "acbd6",
        "symbol": "ACBD6",
        "hgnc": "HGNC:23339",
        "name": "acyl-CoA binding domain containing 6",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acbd6"
      },
      {
        "slug": "cox7b",
        "symbol": "COX7B",
        "hgnc": "HGNC:2291",
        "name": "cytochrome c oxidase subunit 7B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox7b"
      },
      {
        "slug": "hccs",
        "symbol": "HCCS",
        "hgnc": "HGNC:4837",
        "name": "holocytochrome c synthase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hccs"
      },
      {
        "slug": "mpdz",
        "symbol": "MPDZ",
        "hgnc": "HGNC:7208",
        "name": "multiple PDZ domain crumbs cell polarity complex component",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mpdz"
      },
      {
        "slug": "ndufb11",
        "symbol": "NDUFB11",
        "hgnc": "HGNC:20372",
        "name": "NADH:ubiquinone oxidoreductase subunit B11",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufb11"
      },
      {
        "slug": "pex10",
        "symbol": "PEX10",
        "hgnc": "HGNC:8851",
        "name": "peroxisomal biogenesis factor 10",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex10"
      }
    ]
  }
}