{
  "url": "https://dantelabs.com/traits/dandy-walker-malformation",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "dandy-walker-malformation",
    "id": "HP:0001305",
    "name": "Dandy-Walker malformation",
    "definition": "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.",
    "synonyms": [
      "Dandy-walker anomaly",
      "Dandy-Walker cyst"
    ],
    "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"
      },
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      }
    ],
    "broader": [
      {
        "slug": "cerebellar-cyst",
        "name": "Cerebellar cyst",
        "url": "https://dantelabs.com/traits/cerebellar-cyst"
      },
      {
        "slug": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "dilated-fourth-ventricle",
        "name": "Dilated fourth ventricle",
        "url": "https://dantelabs.com/traits/dilated-fourth-ventricle"
      },
      {
        "slug": "enlarged-posterior-fossa",
        "name": "Enlarged posterior fossa",
        "url": "https://dantelabs.com/traits/enlarged-posterior-fossa"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "arid2",
        "symbol": "ARID2",
        "hgnc": "HGNC:18037",
        "name": "AT-rich interaction domain 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/arid2"
      },
      {
        "slug": "b4galt1",
        "symbol": "B4GALT1",
        "hgnc": "HGNC:924",
        "name": "beta-1,4-galactosyltransferase 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/b4galt1"
      },
      {
        "slug": "b9d2",
        "symbol": "B9D2",
        "hgnc": "HGNC:28636",
        "name": "B9 domain containing 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/b9d2"
      },
      {
        "slug": "bltp1",
        "symbol": "BLTP1",
        "hgnc": "HGNC:26953",
        "name": "bridge-like lipid transfer protein family member 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bltp1"
      },
      {
        "slug": "cog8",
        "symbol": "COG8",
        "hgnc": "HGNC:18623",
        "name": "component of oligomeric golgi complex 8",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cog8"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "hgnc": "HGNC:17997",
        "name": "fukutin related protein",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/fkrp"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "hgnc": "HGNC:3622",
        "name": "fukutin",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fktn"
      },
      {
        "slug": "gtf3c3",
        "symbol": "GTF3C3",
        "hgnc": "HGNC:4666",
        "name": "general transcription factor IIIC subunit 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf3c3"
      },
      {
        "slug": "inpp4a",
        "symbol": "INPP4A",
        "hgnc": "HGNC:6074",
        "name": "inositol polyphosphate-4-phosphatase type I A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/inpp4a"
      },
      {
        "slug": "kif5a",
        "symbol": "KIF5A",
        "hgnc": "HGNC:6323",
        "name": "kinesin family member 5A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif5a"
      },
      {
        "slug": "large1",
        "symbol": "LARGE1",
        "hgnc": "HGNC:6511",
        "name": "LARGE xylosyl- and glucuronyltransferase 1",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/large1"
      },
      {
        "slug": "mab21l1",
        "symbol": "MAB21L1",
        "hgnc": "HGNC:6757",
        "name": "mab-21 like 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mab21l1"
      },
      {
        "slug": "piezo2",
        "symbol": "PIEZO2",
        "hgnc": "HGNC:26270",
        "name": "piezo type mechanosensitive ion channel component 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/piezo2"
      },
      {
        "slug": "polr1a",
        "symbol": "POLR1A",
        "hgnc": "HGNC:17264",
        "name": "RNA polymerase I subunit A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polr1a"
      },
      {
        "slug": "pomt1",
        "symbol": "POMT1",
        "hgnc": "HGNC:9202",
        "name": "protein O-mannosyltransferase 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pomt1"
      },
      {
        "slug": "pomt2",
        "symbol": "POMT2",
        "hgnc": "HGNC:19743",
        "name": "protein O-mannosyltransferase 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pomt2"
      },
      {
        "slug": "rnf113a",
        "symbol": "RNF113A",
        "hgnc": "HGNC:12974",
        "name": "ring finger protein 113A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnf113a"
      },
      {
        "slug": "tbc1d32",
        "symbol": "TBC1D32",
        "hgnc": "HGNC:21485",
        "name": "TBC1 domain family member 32",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbc1d32"
      },
      {
        "slug": "bub1",
        "symbol": "BUB1",
        "hgnc": "HGNC:1148",
        "name": "BUB1 mitotic checkpoint serine/threonine kinase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bub1"
      },
      {
        "slug": "bub1b",
        "symbol": "BUB1B",
        "hgnc": "HGNC:1149",
        "name": "BUB1 mitotic checkpoint serine/threonine kinase B",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/bub1b"
      },
      {
        "slug": "bub3",
        "symbol": "BUB3",
        "hgnc": "HGNC:1151",
        "name": "BUB3 mitotic checkpoint protein",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bub3"
      },
      {
        "slug": "ccdc22",
        "symbol": "CCDC22",
        "hgnc": "HGNC:28909",
        "name": "CCC complex scaffolding subunit CCDC22",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ccdc22"
      },
      {
        "slug": "cep57",
        "symbol": "CEP57",
        "hgnc": "HGNC:30794",
        "name": "centrosomal protein 57",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep57"
      },
      {
        "slug": "dpysl5",
        "symbol": "DPYSL5",
        "hgnc": "HGNC:20637",
        "name": "dihydropyrimidinase like 5",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dpysl5"
      },
      {
        "slug": "nphp3",
        "symbol": "NPHP3",
        "hgnc": "HGNC:7907",
        "name": "nephrocystin 3",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/nphp3"
      },
      {
        "slug": "trip13",
        "symbol": "TRIP13",
        "hgnc": "HGNC:12307",
        "name": "thyroid hormone receptor interactor 13",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trip13"
      },
      {
        "slug": "vps35l",
        "symbol": "VPS35L",
        "hgnc": "HGNC:24641",
        "name": "VPS35 endosomal protein sorting factor like",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps35l"
      },
      {
        "slug": "washc5",
        "symbol": "WASHC5",
        "hgnc": "HGNC:28984",
        "name": "WASH complex subunit 5",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/washc5"
      },
      {
        "slug": "zic1",
        "symbol": "ZIC1",
        "hgnc": "HGNC:12872",
        "name": "Zic family zinc finger 1",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/zic1"
      },
      {
        "slug": "zic4",
        "symbol": "ZIC4",
        "hgnc": "HGNC:20393",
        "name": "Zic family zinc finger 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zic4"
      },
      {
        "slug": "arid1a",
        "symbol": "ARID1A",
        "hgnc": "HGNC:11110",
        "name": "AT-rich interaction domain 1A",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/arid1a"
      },
      {
        "slug": "atp6v0a2",
        "symbol": "ATP6V0A2",
        "hgnc": "HGNC:18481",
        "name": "ATPase H+ transporting V0 subunit a2",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/atp6v0a2"
      },
      {
        "slug": "atp6v1a",
        "symbol": "ATP6V1A",
        "hgnc": "HGNC:851",
        "name": "ATPase H+ transporting V1 subunit A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v1a"
      },
      {
        "slug": "atp6v1e1",
        "symbol": "ATP6V1E1",
        "hgnc": "HGNC:857",
        "name": "ATPase H+ transporting V1 subunit E1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v1e1"
      },
      {
        "slug": "b3galnt2",
        "symbol": "B3GALNT2",
        "hgnc": "HGNC:28596",
        "name": "beta-1,3-N-acetylgalactosaminyltransferase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b3galnt2"
      },
      {
        "slug": "b4gat1",
        "symbol": "B4GAT1",
        "hgnc": "HGNC:15685",
        "name": "beta-1,4-glucuronyltransferase 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/b4gat1"
      },
      {
        "slug": "c2cd3",
        "symbol": "C2CD3",
        "hgnc": "HGNC:24564",
        "name": "C2 domain containing 3 centriole elongation regulator",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/c2cd3"
      },
      {
        "slug": "cep120",
        "symbol": "CEP120",
        "hgnc": "HGNC:26690",
        "name": "centrosomal protein 120",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep120"
      },
      {
        "slug": "col4a1",
        "symbol": "COL4A1",
        "hgnc": "HGNC:2202",
        "name": "collagen type IV alpha 1 chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col4a1"
      },
      {
        "slug": "crppa",
        "symbol": "CRPPA",
        "hgnc": "HGNC:37276",
        "name": "CDP-L-ribitol pyrophosphorylase A",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/crppa"
      },
      {
        "slug": "dag1",
        "symbol": "DAG1",
        "hgnc": "HGNC:2666",
        "name": "dystroglycan 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dag1"
      },
      {
        "slug": "dennd5a",
        "symbol": "DENND5A",
        "hgnc": "HGNC:19344",
        "name": "DENN domain containing 5A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dennd5a"
      },
      {
        "slug": "dph1",
        "symbol": "DPH1",
        "hgnc": "HGNC:3003",
        "name": "diphthamide biosynthesis 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dph1"
      },
      {
        "slug": "dph2",
        "symbol": "DPH2",
        "hgnc": "HGNC:3004",
        "name": "diphthamide biosynthesis 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dph2"
      },
      {
        "slug": "ebp",
        "symbol": "EBP",
        "hgnc": "HGNC:3133",
        "name": "EBP cholestenol delta-isomerase",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/ebp"
      },
      {
        "slug": "exoc3l2",
        "symbol": "EXOC3L2",
        "hgnc": "HGNC:30162",
        "name": "exocyst complex component 3 like 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/exoc3l2"
      },
      {
        "slug": "far1",
        "symbol": "FAR1",
        "hgnc": "HGNC:26222",
        "name": "fatty acyl-CoA reductase 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/far1"
      },
      {
        "slug": "gli3",
        "symbol": "GLI3",
        "hgnc": "HGNC:4319",
        "name": "GLI family zinc finger 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gli3"
      },
      {
        "slug": "gtpbp2",
        "symbol": "GTPBP2",
        "hgnc": "HGNC:4670",
        "name": "GTP binding protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtpbp2"
      },
      {
        "slug": "kif7",
        "symbol": "KIF7",
        "hgnc": "HGNC:30497",
        "name": "kinesin family member 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif7"
      },
      {
        "slug": "pgap2",
        "symbol": "PGAP2",
        "hgnc": "HGNC:17893",
        "name": "post-GPI attachment to proteins 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pgap2"
      },
      {
        "slug": "plg",
        "symbol": "PLG",
        "hgnc": "HGNC:9071",
        "name": "plasminogen",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/plg"
      },
      {
        "slug": "pogz",
        "symbol": "POGZ",
        "hgnc": "HGNC:18801",
        "name": "pogo transposable element derived with ZNF domain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pogz"
      },
      {
        "slug": "pomgnt1",
        "symbol": "POMGNT1",
        "hgnc": "HGNC:19139",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomgnt1"
      },
      {
        "slug": "pomgnt2",
        "symbol": "POMGNT2",
        "hgnc": "HGNC:25902",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomgnt2"
      },
      {
        "slug": "pomk",
        "symbol": "POMK",
        "hgnc": "HGNC:26267",
        "name": "protein O-mannose kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomk"
      },
      {
        "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": "rxylt1",
        "symbol": "RXYLT1",
        "hgnc": "HGNC:13530",
        "name": "ribitol xylosyltransferase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rxylt1"
      },
      {
        "slug": "smg9",
        "symbol": "SMG9",
        "hgnc": "HGNC:25763",
        "name": "SMG9 nonsense mediated mRNA decay factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smg9"
      },
      {
        "slug": "tubb",
        "symbol": "TUBB",
        "hgnc": "HGNC:20778",
        "name": "tubulin beta class I",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tubb"
      },
      {
        "slug": "usp9x",
        "symbol": "USP9X",
        "hgnc": "HGNC:12632",
        "name": "ubiquitin specific peptidase 9 X-linked",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/usp9x"
      },
      {
        "slug": "vps51",
        "symbol": "VPS51",
        "hgnc": "HGNC:1172",
        "name": "VPS51 subunit of GARP complex",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps51"
      },
      {
        "slug": "aff3",
        "symbol": "AFF3",
        "hgnc": "HGNC:6473",
        "name": "ALF transcription elongation factor 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aff3"
      },
      {
        "slug": "ap1s2",
        "symbol": "AP1S2",
        "hgnc": "HGNC:560",
        "name": "adaptor related protein complex 1 subunit sigma 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ap1s2"
      },
      {
        "slug": "arid1b",
        "symbol": "ARID1B",
        "hgnc": "HGNC:18040",
        "name": "AT-rich interaction domain 1B",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/arid1b"
      },
      {
        "slug": "armc9",
        "symbol": "ARMC9",
        "hgnc": "HGNC:20730",
        "name": "armadillo repeat containing 9",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/armc9"
      },
      {
        "slug": "asxl1",
        "symbol": "ASXL1",
        "hgnc": "HGNC:18318",
        "name": "ASXL transcriptional regulator 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/asxl1"
      },
      {
        "slug": "b9d1",
        "symbol": "B9D1",
        "hgnc": "HGNC:24123",
        "name": "B9 domain containing 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b9d1"
      },
      {
        "slug": "bcor",
        "symbol": "BCOR",
        "hgnc": "HGNC:20893",
        "name": "BCL6 corepressor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bcor"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "hgnc": "HGNC:29253",
        "name": "coiled-coil and C2 domain containing 2A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cc2d2a"
      },
      {
        "slug": "cdc42",
        "symbol": "CDC42",
        "hgnc": "HGNC:1736",
        "name": "cell division cycle 42",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdc42"
      },
      {
        "slug": "cdkn1c",
        "symbol": "CDKN1C",
        "hgnc": "HGNC:1786",
        "name": "cyclin dependent kinase inhibitor 1C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdkn1c"
      },
      {
        "slug": "cep290",
        "symbol": "CEP290",
        "hgnc": "HGNC:29021",
        "name": "centrosomal protein 290",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cep290"
      },
      {
        "slug": "chd7",
        "symbol": "CHD7",
        "hgnc": "HGNC:20626",
        "name": "chromodomain helicase DNA binding protein 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chd7"
      },
      {
        "slug": "cpt2",
        "symbol": "CPT2",
        "hgnc": "HGNC:2330",
        "name": "carnitine palmitoyltransferase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cpt2"
      },
      {
        "slug": "csf1r",
        "symbol": "CSF1R",
        "hgnc": "HGNC:2433",
        "name": "colony stimulating factor 1 receptor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/csf1r"
      },
      {
        "slug": "cspp1",
        "symbol": "CSPP1",
        "hgnc": "HGNC:26193",
        "name": "centrosome and spindle pole associated protein 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cspp1"
      },
      {
        "slug": "dhcr7",
        "symbol": "DHCR7",
        "hgnc": "HGNC:2860",
        "name": "7-dehydrocholesterol reductase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhcr7"
      },
      {
        "slug": "dok7",
        "symbol": "DOK7",
        "hgnc": "HGNC:26594",
        "name": "docking protein 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dok7"
      },
      {
        "slug": "dpf2",
        "symbol": "DPF2",
        "hgnc": "HGNC:9964",
        "name": "double PHD fingers 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dpf2"
      },
      {
        "slug": "dync2h1",
        "symbol": "DYNC2H1",
        "hgnc": "HGNC:2962",
        "name": "dynein cytoplasmic 2 heavy chain 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dync2h1"
      },
      {
        "slug": "dync2i1",
        "symbol": "DYNC2I1",
        "hgnc": "HGNC:21862",
        "name": "dynein 2 intermediate chain 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dync2i1"
      },
      {
        "slug": "dync2i2",
        "symbol": "DYNC2I2",
        "hgnc": "HGNC:28296",
        "name": "dynein 2 intermediate chain 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dync2i2"
      },
      {
        "slug": "esco2",
        "symbol": "ESCO2",
        "hgnc": "HGNC:27230",
        "name": "establishment of sister chromatid cohesion N-acetyltransferase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/esco2"
      },
      {
        "slug": "fto",
        "symbol": "FTO",
        "hgnc": "HGNC:24678",
        "name": "FTO alpha-ketoglutarate dependent dioxygenase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fto"
      },
      {
        "slug": "gldn",
        "symbol": "GLDN",
        "hgnc": "HGNC:29514",
        "name": "gliomedin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gldn"
      },
      {
        "slug": "gpc3",
        "symbol": "GPC3",
        "hgnc": "HGNC:4451",
        "name": "glypican 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpc3"
      },
      {
        "slug": "gpc4",
        "symbol": "GPC4",
        "hgnc": "HGNC:4452",
        "name": "glypican 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpc4"
      },
      {
        "slug": "hras",
        "symbol": "HRAS",
        "hgnc": "HGNC:5173",
        "name": "HRas proto-oncogene, GTPase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hras"
      },
      {
        "slug": "ift80",
        "symbol": "IFT80",
        "hgnc": "HGNC:29262",
        "name": "intraflagellar transport 80",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift80"
      },
      {
        "slug": "igf2",
        "symbol": "IGF2",
        "hgnc": "HGNC:5466",
        "name": "insulin like growth factor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/igf2"
      },
      {
        "slug": "kcnq1",
        "symbol": "KCNQ1",
        "hgnc": "HGNC:6294",
        "name": "potassium voltage-gated channel subfamily Q member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnq1"
      },
      {
        "slug": "kcnq1ot1",
        "symbol": "KCNQ1OT1",
        "hgnc": "HGNC:6295",
        "name": "KCNQ1 opposite strand/antisense transcript 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnq1ot1"
      },
      {
        "slug": "kiaa0586",
        "symbol": "KIAA0586",
        "hgnc": "HGNC:19960",
        "name": "KIAA0586",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kiaa0586"
      },
      {
        "slug": "kif21a",
        "symbol": "KIF21A",
        "hgnc": "HGNC:19349",
        "name": "kinesin family member 21A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif21a"
      },
      {
        "slug": "kras",
        "symbol": "KRAS",
        "hgnc": "HGNC:6407",
        "name": "KRas proto-oncogene, GTPase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kras"
      },
      {
        "slug": "magel2",
        "symbol": "MAGEL2",
        "hgnc": "HGNC:6814",
        "name": "MAGE family member L2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/magel2"
      },
      {
        "slug": "mid1",
        "symbol": "MID1",
        "hgnc": "HGNC:7095",
        "name": "midline 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mid1"
      },
      {
        "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": "musk",
        "symbol": "MUSK",
        "hgnc": "HGNC:7525",
        "name": "muscle associated receptor tyrosine kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/musk"
      },
      {
        "slug": "myod1",
        "symbol": "MYOD1",
        "hgnc": "HGNC:7611",
        "name": "myogenic differentiation 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myod1"
      },
      {
        "slug": "nras",
        "symbol": "NRAS",
        "hgnc": "HGNC:7989",
        "name": "NRAS proto-oncogene, GTPase",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nras"
      },
      {
        "slug": "nup88",
        "symbol": "NUP88",
        "hgnc": "HGNC:8067",
        "name": "nucleoporin 88",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nup88"
      },
      {
        "slug": "ofd1",
        "symbol": "OFD1",
        "hgnc": "HGNC:2567",
        "name": "OFD1 centriole and centriolar satellite protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ofd1"
      },
      {
        "slug": "pign",
        "symbol": "PIGN",
        "hgnc": "HGNC:8967",
        "name": "phosphatidylinositol glycan anchor biosynthesis class N",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pign"
      },
      {
        "slug": "plch1",
        "symbol": "PLCH1",
        "hgnc": "HGNC:29185",
        "name": "phospholipase C eta 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plch1"
      },
      {
        "slug": "rapsn",
        "symbol": "RAPSN",
        "hgnc": "HGNC:9863",
        "name": "receptor associated protein of the synapse",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rapsn"
      },
      {
        "slug": "rbmx",
        "symbol": "RBMX",
        "hgnc": "HGNC:9910",
        "name": "RNA binding motif protein X-linked",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rbmx"
      },
      {
        "slug": "rpgrip1",
        "symbol": "RPGRIP1",
        "hgnc": "HGNC:13436",
        "name": "RPGR interacting protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpgrip1"
      },
      {
        "slug": "rpgrip1l",
        "symbol": "RPGRIP1L",
        "hgnc": "HGNC:29168",
        "name": "RPGRIP1 like",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpgrip1l"
      },
      {
        "slug": "sema3e",
        "symbol": "SEMA3E",
        "hgnc": "HGNC:10727",
        "name": "semaphorin 3E",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sema3e"
      },
      {
        "slug": "slc18a3",
        "symbol": "SLC18A3",
        "hgnc": "HGNC:10936",
        "name": "solute carrier family 18 member A3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc18a3"
      },
      {
        "slug": "smarca4",
        "symbol": "SMARCA4",
        "hgnc": "HGNC:11100",
        "name": "SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/smarca4"
      },
      {
        "slug": "smarcb1",
        "symbol": "SMARCB1",
        "hgnc": "HGNC:11103",
        "name": "SWI/SNF related BAF chromatin remodeling complex subunit B1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smarcb1"
      },
      {
        "slug": "smarcc2",
        "symbol": "SMARCC2",
        "hgnc": "HGNC:11105",
        "name": "SWI/SNF related BAF chromatin remodeling complex subunit C2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smarcc2"
      },
      {
        "slug": "smarcd1",
        "symbol": "SMARCD1",
        "hgnc": "HGNC:11106",
        "name": "SWI/SNF related BAF chromatin remodeling complex subunit D1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smarcd1"
      },
      {
        "slug": "smarce1",
        "symbol": "SMARCE1",
        "hgnc": "HGNC:11109",
        "name": "SWI/SNF related BAF chromatin remodeling complex subunit E1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/smarce1"
      },
      {
        "slug": "sox11",
        "symbol": "SOX11",
        "hgnc": "HGNC:11191",
        "name": "SRY-box transcription factor 11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox11"
      },
      {
        "slug": "sox4",
        "symbol": "SOX4",
        "hgnc": "HGNC:11200",
        "name": "SRY-box transcription factor 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox4"
      },
      {
        "slug": "tbc1d24",
        "symbol": "TBC1D24",
        "hgnc": "HGNC:29203",
        "name": "TBC1 domain family member 24",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tbc1d24"
      },
      {
        "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": "tmem138",
        "symbol": "TMEM138",
        "hgnc": "HGNC:26944",
        "name": "transmembrane protein 138",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem138"
      },
      {
        "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": 2,
        "url": "https://dantelabs.com/genes/tmem237"
      },
      {
        "slug": "tmem67",
        "symbol": "TMEM67",
        "hgnc": "HGNC:28396",
        "name": "transmembrane protein 67",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tmem67"
      },
      {
        "slug": "tuba1a",
        "symbol": "TUBA1A",
        "hgnc": "HGNC:20766",
        "name": "tubulin alpha 1a",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tuba1a"
      },
      {
        "slug": "txndc15",
        "symbol": "TXNDC15",
        "hgnc": "HGNC:20652",
        "name": "thioredoxin domain containing 15",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/txndc15"
      },
      {
        "slug": "wdr35",
        "symbol": "WDR35",
        "hgnc": "HGNC:29250",
        "name": "WD repeat domain 35",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr35"
      },
      {
        "slug": "wdr73",
        "symbol": "WDR73",
        "hgnc": "HGNC:25928",
        "name": "WD repeat domain 73",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr73"
      },
      {
        "slug": "wdr81",
        "symbol": "WDR81",
        "hgnc": "HGNC:26600",
        "name": "WD repeat domain 81",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr81"
      },
      {
        "slug": "alg3",
        "symbol": "ALG3",
        "hgnc": "HGNC:23056",
        "name": "ALG3 alpha-1,3- mannosyltransferase",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg3"
      },
      {
        "slug": "atp6v1b2",
        "symbol": "ATP6V1B2",
        "hgnc": "HGNC:854",
        "name": "ATPase H+ transporting V1 subunit B2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v1b2"
      },
      {
        "slug": "ddx3x",
        "symbol": "DDX3X",
        "hgnc": "HGNC:2745",
        "name": "DEAD-box helicase 3 X-linked",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddx3x"
      },
      {
        "slug": "gjb2",
        "symbol": "GJB2",
        "hgnc": "HGNC:4284",
        "name": "gap junction protein beta 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gjb2"
      },
      {
        "slug": "gjb6",
        "symbol": "GJB6",
        "hgnc": "HGNC:4288",
        "name": "gap junction protein beta 6",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gjb6"
      },
      {
        "slug": "mtm1",
        "symbol": "MTM1",
        "hgnc": "HGNC:7448",
        "name": "myotubularin 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mtm1"
      },
      {
        "slug": "pmm2",
        "symbol": "PMM2",
        "hgnc": "HGNC:9115",
        "name": "phosphomannomutase 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pmm2"
      },
      {
        "slug": "slc35a2",
        "symbol": "SLC35A2",
        "hgnc": "HGNC:11022",
        "name": "solute carrier family 35 member A2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc35a2"
      },
      {
        "slug": "evc",
        "symbol": "EVC",
        "hgnc": "HGNC:3497",
        "name": "EvC ciliary complex subunit 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/evc"
      },
      {
        "slug": "evc2",
        "symbol": "EVC2",
        "hgnc": "HGNC:19747",
        "name": "EvC ciliary complex subunit 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/evc2"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "hgnc": "HGNC:3688",
        "name": "fibroblast growth factor receptor 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr1"
      },
      {
        "slug": "flvcr2",
        "symbol": "FLVCR2",
        "hgnc": "HGNC:20105",
        "name": "FLVCR choline and putative heme transporter 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flvcr2"
      },
      {
        "slug": "hyls1",
        "symbol": "HYLS1",
        "hgnc": "HGNC:26558",
        "name": "HYLS1 centriolar and ciliogenesis associated",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hyls1"
      },
      {
        "slug": "phgdh",
        "symbol": "PHGDH",
        "hgnc": "HGNC:8923",
        "name": "phosphoglycerate dehydrogenase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phgdh"
      },
      {
        "slug": "polr3a",
        "symbol": "POLR3A",
        "hgnc": "HGNC:30074",
        "name": "RNA polymerase III subunit A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polr3a"
      }
    ]
  }
}