{
  "url": "https://dantelabs.com/traits/chiari-malformation",
  "trait": {
    "bundleId": "2026.10.16-c6eea6bf",
    "release": "2026-09-01",
    "slug": "chiari-malformation",
    "id": "HP:0002308",
    "name": "Chiari malformation",
    "definition": "Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.",
    "synonyms": [
      "Arnold-Chiari malformation",
      "Cerebellar tonsillar ectopia"
    ],
    "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-cerebellum-morphology",
        "name": "Abnormality of the cerebellum",
        "url": "https://dantelabs.com/traits/abnormal-cerebellum-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "chiari-type-i-malformation",
        "name": "Chiari type I malformation",
        "genes": 48,
        "url": "https://dantelabs.com/traits/chiari-type-i-malformation"
      },
      {
        "slug": "chiari-type-ii-malformation",
        "name": "Chiari type II malformation",
        "genes": 2,
        "url": "https://dantelabs.com/traits/chiari-type-ii-malformation"
      }
    ],
    "genes": [
      {
        "slug": "alpk3",
        "symbol": "ALPK3",
        "hgnc": "HGNC:17574",
        "name": "alpha kinase 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alpk3"
      },
      {
        "slug": "cnksr2",
        "symbol": "CNKSR2",
        "hgnc": "HGNC:19701",
        "name": "connector enhancer of kinase suppressor of Ras 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cnksr2"
      },
      {
        "slug": "fgfr2",
        "symbol": "FGFR2",
        "hgnc": "HGNC:3689",
        "name": "fibroblast growth factor receptor 2",
        "frequency": "obligate",
        "diseases": 6,
        "url": "https://dantelabs.com/genes/fgfr2"
      },
      {
        "slug": "otx2",
        "symbol": "OTX2",
        "hgnc": "HGNC:8522",
        "name": "orthodenticle homeobox 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/otx2"
      },
      {
        "slug": "pth1r",
        "symbol": "PTH1R",
        "hgnc": "HGNC:9608",
        "name": "parathyroid hormone 1 receptor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pth1r"
      },
      {
        "slug": "rfwd3",
        "symbol": "RFWD3",
        "hgnc": "HGNC:25539",
        "name": "ring finger and WD repeat domain 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfwd3"
      },
      {
        "slug": "sik3",
        "symbol": "SIK3",
        "hgnc": "HGNC:29165",
        "name": "SIK family kinase 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sik3"
      },
      {
        "slug": "fanci",
        "symbol": "FANCI",
        "hgnc": "HGNC:25568",
        "name": "FA complementation group I",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fanci"
      },
      {
        "slug": "fgfr3",
        "symbol": "FGFR3",
        "hgnc": "HGNC:3690",
        "name": "fibroblast growth factor receptor 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr3"
      },
      {
        "slug": "il11ra",
        "symbol": "IL11RA",
        "hgnc": "HGNC:5967",
        "name": "interleukin 11 receptor subunit alpha",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il11ra"
      },
      {
        "slug": "notch2",
        "symbol": "NOTCH2",
        "hgnc": "HGNC:7882",
        "name": "notch receptor 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch2"
      },
      {
        "slug": "ptch1",
        "symbol": "PTCH1",
        "hgnc": "HGNC:9585",
        "name": "patched 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptch1"
      },
      {
        "slug": "sc5d",
        "symbol": "SC5D",
        "hgnc": "HGNC:10547",
        "name": "sterol-C5-desaturase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sc5d"
      },
      {
        "slug": "tbl1xr1",
        "symbol": "TBL1XR1",
        "hgnc": "HGNC:29529",
        "name": "TBL1X/Y related 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tbl1xr1"
      },
      {
        "slug": "baz1b",
        "symbol": "BAZ1B",
        "hgnc": "HGNC:961",
        "name": "bromodomain adjacent to zinc finger domain 1B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/baz1b"
      },
      {
        "slug": "bicra",
        "symbol": "BICRA",
        "hgnc": "HGNC:4332",
        "name": "BRD4 interacting chromatin remodeling complex associated protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bicra"
      },
      {
        "slug": "bud23",
        "symbol": "BUD23",
        "hgnc": "HGNC:16405",
        "name": "BUD23 rRNA methyltransferase and ribosome maturation factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bud23"
      },
      {
        "slug": "chd4",
        "symbol": "CHD4",
        "hgnc": "HGNC:1919",
        "name": "chromodomain helicase DNA binding protein 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chd4"
      },
      {
        "slug": "clip2",
        "symbol": "CLIP2",
        "hgnc": "HGNC:2586",
        "name": "CAP-Gly domain containing linker protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/clip2"
      },
      {
        "slug": "crebbp",
        "symbol": "CREBBP",
        "hgnc": "HGNC:2348",
        "name": "CREB binding lysine acetyltransferase",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/crebbp"
      },
      {
        "slug": "cwc27",
        "symbol": "CWC27",
        "hgnc": "HGNC:10664",
        "name": "CWC27 spliceosome associated cyclophilin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cwc27"
      },
      {
        "slug": "dact1",
        "symbol": "DACT1",
        "hgnc": "HGNC:17748",
        "name": "dishevelled binding antagonist of beta catenin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dact1"
      },
      {
        "slug": "dnajc30",
        "symbol": "DNAJC30",
        "hgnc": "HGNC:16410",
        "name": "DnaJ heat shock protein family (Hsp40) member C30",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnajc30"
      },
      {
        "slug": "dnmt3a",
        "symbol": "DNMT3A",
        "hgnc": "HGNC:2978",
        "name": "DNA methyltransferase 3 alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnmt3a"
      },
      {
        "slug": "eif4h",
        "symbol": "EIF4H",
        "hgnc": "HGNC:12741",
        "name": "eukaryotic translation initiation factor 4H",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eif4h"
      },
      {
        "slug": "eln",
        "symbol": "ELN",
        "hgnc": "HGNC:3327",
        "name": "elastin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eln"
      },
      {
        "slug": "ep300",
        "symbol": "EP300",
        "hgnc": "HGNC:3373",
        "name": "EP300 lysine acetyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ep300"
      },
      {
        "slug": "fbn1",
        "symbol": "FBN1",
        "hgnc": "HGNC:3603",
        "name": "fibrillin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbn1"
      },
      {
        "slug": "fkbp6",
        "symbol": "FKBP6",
        "hgnc": "HGNC:3722",
        "name": "FKBP prolyl isomerase family member 6 (inactive)",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fkbp6"
      },
      {
        "slug": "flna",
        "symbol": "FLNA",
        "hgnc": "HGNC:3754",
        "name": "filamin A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flna"
      },
      {
        "slug": "foxf1",
        "symbol": "FOXF1",
        "hgnc": "HGNC:3809",
        "name": "forkhead box F1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxf1"
      },
      {
        "slug": "fuz",
        "symbol": "FUZ",
        "hgnc": "HGNC:26219",
        "name": "fuzzy planar cell polarity protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fuz"
      },
      {
        "slug": "gnaq",
        "symbol": "GNAQ",
        "hgnc": "HGNC:4390",
        "name": "G protein subunit alpha q",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnaq"
      },
      {
        "slug": "gtf2i",
        "symbol": "GTF2I",
        "hgnc": "HGNC:4659",
        "name": "general transcription factor IIi",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2i"
      },
      {
        "slug": "gtf2ird1",
        "symbol": "GTF2IRD1",
        "hgnc": "HGNC:4661",
        "name": "GTF2I repeat domain containing 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2ird1"
      },
      {
        "slug": "gtf2ird2",
        "symbol": "GTF2IRD2",
        "hgnc": "HGNC:30775",
        "name": "GTF2I repeat domain containing 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2ird2"
      },
      {
        "slug": "hmga2",
        "symbol": "HMGA2",
        "hgnc": "HGNC:5009",
        "name": "high mobility group AT-hook 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hmga2"
      },
      {
        "slug": "lemd3",
        "symbol": "LEMD3",
        "hgnc": "HGNC:28887",
        "name": "LEM domain containing 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lemd3"
      },
      {
        "slug": "limk1",
        "symbol": "LIMK1",
        "hgnc": "HGNC:6613",
        "name": "LIM domain kinase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/limk1"
      },
      {
        "slug": "man2b1",
        "symbol": "MAN2B1",
        "hgnc": "HGNC:6826",
        "name": "mannosidase alpha class 2B member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/man2b1"
      },
      {
        "slug": "map3k7",
        "symbol": "MAP3K7",
        "hgnc": "HGNC:6859",
        "name": "mitogen-activated protein kinase kinase kinase 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/map3k7"
      },
      {
        "slug": "mbtps2",
        "symbol": "MBTPS2",
        "hgnc": "HGNC:15455",
        "name": "membrane bound transcription factor peptidase, site 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mbtps2"
      },
      {
        "slug": "mettl27",
        "symbol": "METTL27",
        "hgnc": "HGNC:19068",
        "name": "methyltransferase like 27",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mettl27"
      },
      {
        "slug": "ncf1",
        "symbol": "NCF1",
        "hgnc": "HGNC:7660",
        "name": "neutrophil cytosolic factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ncf1"
      },
      {
        "slug": "notch3",
        "symbol": "NOTCH3",
        "hgnc": "HGNC:7883",
        "name": "notch receptor 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch3"
      },
      {
        "slug": "pik3ca",
        "symbol": "PIK3CA",
        "hgnc": "HGNC:8975",
        "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3ca"
      },
      {
        "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": "recql4",
        "symbol": "RECQL4",
        "hgnc": "HGNC:9949",
        "name": "RecQ like helicase 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/recql4"
      },
      {
        "slug": "rfc2",
        "symbol": "RFC2",
        "hgnc": "HGNC:9970",
        "name": "replication factor C subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfc2"
      },
      {
        "slug": "rras2",
        "symbol": "RRAS2",
        "hgnc": "HGNC:17271",
        "name": "RAS related 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rras2"
      },
      {
        "slug": "sall1",
        "symbol": "SALL1",
        "hgnc": "HGNC:10524",
        "name": "spalt like transcription factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sall1"
      },
      {
        "slug": "ski",
        "symbol": "SKI",
        "hgnc": "HGNC:10896",
        "name": "SKI proto-oncogene",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ski"
      },
      {
        "slug": "smarca2",
        "symbol": "SMARCA2",
        "hgnc": "HGNC:11098",
        "name": "SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smarca2"
      },
      {
        "slug": "son",
        "symbol": "SON",
        "hgnc": "HGNC:11183",
        "name": "SON DNA and RNA binding protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/son"
      },
      {
        "slug": "stx1a",
        "symbol": "STX1A",
        "hgnc": "HGNC:11433",
        "name": "syntaxin 1A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stx1a"
      },
      {
        "slug": "tbl2",
        "symbol": "TBL2",
        "hgnc": "HGNC:11586",
        "name": "transducin beta like 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbl2"
      },
      {
        "slug": "tgfbr1",
        "symbol": "TGFBR1",
        "hgnc": "HGNC:11772",
        "name": "transforming growth factor beta receptor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgfbr1"
      },
      {
        "slug": "tgfbr2",
        "symbol": "TGFBR2",
        "hgnc": "HGNC:11773",
        "name": "transforming growth factor beta receptor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgfbr2"
      },
      {
        "slug": "tmem270",
        "symbol": "TMEM270",
        "hgnc": "HGNC:23018",
        "name": "transmembrane protein 270",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem270"
      },
      {
        "slug": "tonsl",
        "symbol": "TONSL",
        "hgnc": "HGNC:7801",
        "name": "tonsoku like, DNA repair protein",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tonsl"
      },
      {
        "slug": "vangl1",
        "symbol": "VANGL1",
        "hgnc": "HGNC:15512",
        "name": "VANGL planar cell polarity protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vangl1"
      },
      {
        "slug": "vps37d",
        "symbol": "VPS37D",
        "hgnc": "HGNC:18287",
        "name": "VPS37D subunit of ESCRT-I",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps37d"
      },
      {
        "slug": "ctsk",
        "symbol": "CTSK",
        "hgnc": "HGNC:2536",
        "name": "cathepsin K",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctsk"
      },
      {
        "slug": "por",
        "symbol": "POR",
        "hgnc": "HGNC:9208",
        "name": "cytochrome p450 oxidoreductase",
        "frequency": "very-rare",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/por"
      },
      {
        "slug": "rnu4-2",
        "symbol": "RNU4-2",
        "hgnc": "HGNC:10193",
        "name": "RNA, U4 small nuclear 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu4-2"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "hgnc": "HGNC:3688",
        "name": "fibroblast growth factor receptor 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr1"
      },
      {
        "slug": "mks1",
        "symbol": "MKS1",
        "hgnc": "HGNC:7121",
        "name": "MKS transition zone complex subunit 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mks1"
      },
      {
        "slug": "polr3a",
        "symbol": "POLR3A",
        "hgnc": "HGNC:30074",
        "name": "RNA polymerase III subunit A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polr3a"
      },
      {
        "slug": "porcn",
        "symbol": "PORCN",
        "hgnc": "HGNC:17652",
        "name": "porcupine O-acyltransferase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/porcn"
      },
      {
        "slug": "setd2",
        "symbol": "SETD2",
        "hgnc": "HGNC:18420",
        "name": "SET domain containing 2, histone lysine methyltransferase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/setd2"
      },
      {
        "slug": "sf3b2",
        "symbol": "SF3B2",
        "hgnc": "HGNC:10769",
        "name": "splicing factor 3b subunit 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sf3b2"
      }
    ]
  }
}