{
  "url": "https://dantelabs.com/traits/anencephaly",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "anencephaly",
    "id": "HP:0002323",
    "name": "Anencephaly",
    "definition": "Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development.",
    "synonyms": [
      "Embryonic anencephaly",
      "Fetal anencephaly",
      "Foetal anencephaly"
    ],
    "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": "aplasia-hypoplasia-of-the-cerebrum",
        "name": "Absent/small cerebrum",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-cerebrum"
      },
      {
        "slug": "open-neural-tube-defect",
        "name": "Open neural tube defect",
        "url": "https://dantelabs.com/traits/open-neural-tube-defect"
      }
    ],
    "narrower": [
      {
        "slug": "hydranencephaly",
        "name": "Hydranencephaly",
        "genes": 9,
        "url": "https://dantelabs.com/traits/hydranencephaly"
      }
    ],
    "genes": [
      {
        "slug": "nuak2",
        "symbol": "NUAK2",
        "hgnc": "HGNC:29558",
        "name": "NUAK family kinase 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nuak2"
      },
      {
        "slug": "rpgrip1l",
        "symbol": "RPGRIP1L",
        "hgnc": "HGNC:29168",
        "name": "RPGRIP1 like",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rpgrip1l"
      },
      {
        "slug": "trim36",
        "symbol": "TRIM36",
        "hgnc": "HGNC:16280",
        "name": "tripartite motif containing 36",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trim36"
      },
      {
        "slug": "dact1",
        "symbol": "DACT1",
        "hgnc": "HGNC:17748",
        "name": "dishevelled binding antagonist of beta catenin 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dact1"
      },
      {
        "slug": "b9d2",
        "symbol": "B9D2",
        "hgnc": "HGNC:28636",
        "name": "B9 domain containing 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/b9d2"
      },
      {
        "slug": "kif7",
        "symbol": "KIF7",
        "hgnc": "HGNC:30497",
        "name": "kinesin family member 7",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kif7"
      },
      {
        "slug": "b9d1",
        "symbol": "B9D1",
        "hgnc": "HGNC:24123",
        "name": "B9 domain containing 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b9d1"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "hgnc": "HGNC:29253",
        "name": "coiled-coil and C2 domain containing 2A",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cc2d2a"
      },
      {
        "slug": "cep290",
        "symbol": "CEP290",
        "hgnc": "HGNC:29021",
        "name": "centrosomal protein 290",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cep290"
      },
      {
        "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": "hoxd13",
        "symbol": "HOXD13",
        "hgnc": "HGNC:5136",
        "name": "homeobox D13",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hoxd13"
      },
      {
        "slug": "hyls1",
        "symbol": "HYLS1",
        "hgnc": "HGNC:26558",
        "name": "HYLS1 centriolar and ciliogenesis associated",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hyls1"
      },
      {
        "slug": "kiaa0586",
        "symbol": "KIAA0586",
        "hgnc": "HGNC:19960",
        "name": "KIAA0586",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kiaa0586"
      },
      {
        "slug": "mks1",
        "symbol": "MKS1",
        "hgnc": "HGNC:7121",
        "name": "MKS transition zone complex subunit 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mks1"
      },
      {
        "slug": "rpgrip1",
        "symbol": "RPGRIP1",
        "hgnc": "HGNC:13436",
        "name": "RPGR interacting protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpgrip1"
      },
      {
        "slug": "tbc1d32",
        "symbol": "TBC1D32",
        "hgnc": "HGNC:21485",
        "name": "TBC1 domain family member 32",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbc1d32"
      },
      {
        "slug": "tctn1",
        "symbol": "TCTN1",
        "hgnc": "HGNC:26113",
        "name": "tectonic family member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tctn1"
      },
      {
        "slug": "tctn2",
        "symbol": "TCTN2",
        "hgnc": "HGNC:25774",
        "name": "tectonic family member 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tctn2"
      },
      {
        "slug": "tctn3",
        "symbol": "TCTN3",
        "hgnc": "HGNC:24519",
        "name": "tectonic family member 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tctn3"
      },
      {
        "slug": "tmem107",
        "symbol": "TMEM107",
        "hgnc": "HGNC:28128",
        "name": "transmembrane protein 107",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem107"
      },
      {
        "slug": "tmem216",
        "symbol": "TMEM216",
        "hgnc": "HGNC:25018",
        "name": "transmembrane protein 216",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tmem216"
      },
      {
        "slug": "tmem231",
        "symbol": "TMEM231",
        "hgnc": "HGNC:37234",
        "name": "transmembrane protein 231",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem231"
      },
      {
        "slug": "tmem237",
        "symbol": "TMEM237",
        "hgnc": "HGNC:14432",
        "name": "transmembrane protein 237",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem237"
      },
      {
        "slug": "tmem67",
        "symbol": "TMEM67",
        "hgnc": "HGNC:28396",
        "name": "transmembrane protein 67",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem67"
      },
      {
        "slug": "txndc15",
        "symbol": "TXNDC15",
        "hgnc": "HGNC:20652",
        "name": "thioredoxin domain containing 15",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/txndc15"
      },
      {
        "slug": "b4gat1",
        "symbol": "B4GAT1",
        "hgnc": "HGNC:15685",
        "name": "beta-1,4-glucuronyltransferase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b4gat1"
      },
      {
        "slug": "fuz",
        "symbol": "FUZ",
        "hgnc": "HGNC:26219",
        "name": "fuzzy planar cell polarity protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fuz"
      },
      {
        "slug": "tbxt",
        "symbol": "TBXT",
        "hgnc": "HGNC:11515",
        "name": "T-box transcription factor T",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbxt"
      },
      {
        "slug": "vangl1",
        "symbol": "VANGL1",
        "hgnc": "HGNC:15512",
        "name": "VANGL planar cell polarity protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vangl1"
      },
      {
        "slug": "vangl2",
        "symbol": "VANGL2",
        "hgnc": "HGNC:15511",
        "name": "VANGL planar cell polarity protein 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vangl2"
      }
    ]
  }
}