{
  "url": "https://dantelabs.com/traits/holoprosencephaly",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "holoprosencephaly",
    "id": "HP:0001360",
    "name": "Holoprosencephaly",
    "definition": "Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.",
    "synonyms": [
      "Single brain ventricle"
    ],
    "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-brain-morphology",
        "name": "Abnormal shape of brain",
        "url": "https://dantelabs.com/traits/abnormal-brain-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "lobar-holoprosencephaly",
        "name": "Lobar holoprosencephaly",
        "genes": 26,
        "url": "https://dantelabs.com/traits/lobar-holoprosencephaly"
      },
      {
        "slug": "alobar-holoprosencephaly",
        "name": "Alobar holoprosencephaly",
        "genes": 10,
        "url": "https://dantelabs.com/traits/alobar-holoprosencephaly"
      },
      {
        "slug": "semilobar-holoprosencephaly",
        "name": "Semilobar holoprosencephaly",
        "genes": 10,
        "url": "https://dantelabs.com/traits/semilobar-holoprosencephaly"
      },
      {
        "slug": "syntelencephaly",
        "name": "Syntelencephaly",
        "genes": 1,
        "url": "https://dantelabs.com/traits/syntelencephaly"
      }
    ],
    "genes": [
      {
        "slug": "txndc15",
        "symbol": "TXNDC15",
        "hgnc": "HGNC:20652",
        "name": "thioredoxin domain containing 15",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/txndc15"
      },
      {
        "slug": "zrsr2",
        "symbol": "ZRSR2",
        "hgnc": "HGNC:23019",
        "name": "zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zrsr2"
      },
      {
        "slug": "gpkow",
        "symbol": "GPKOW",
        "hgnc": "HGNC:30677",
        "name": "G-patch domain and KOW motifs",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpkow"
      },
      {
        "slug": "otx2",
        "symbol": "OTX2",
        "hgnc": "HGNC:8522",
        "name": "orthodenticle homeobox 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/otx2"
      },
      {
        "slug": "prrx1",
        "symbol": "PRRX1",
        "hgnc": "HGNC:9142",
        "name": "paired related homeobox 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/prrx1"
      },
      {
        "slug": "cilk1",
        "symbol": "CILK1",
        "hgnc": "HGNC:21219",
        "name": "ciliogenesis associated kinase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cilk1"
      },
      {
        "slug": "cnot1",
        "symbol": "CNOT1",
        "hgnc": "HGNC:7877",
        "name": "CCR4-NOT transcription complex subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cnot1"
      },
      {
        "slug": "mthfr",
        "symbol": "MTHFR",
        "hgnc": "HGNC:7436",
        "name": "methylenetetrahydrofolate reductase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mthfr"
      },
      {
        "slug": "plch1",
        "symbol": "PLCH1",
        "hgnc": "HGNC:29185",
        "name": "phospholipase C eta 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plch1"
      },
      {
        "slug": "ptch1",
        "symbol": "PTCH1",
        "hgnc": "HGNC:9585",
        "name": "patched 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ptch1"
      },
      {
        "slug": "shh",
        "symbol": "SHH",
        "hgnc": "HGNC:10848",
        "name": "sonic hedgehog signaling molecule",
        "frequency": "frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/shh"
      },
      {
        "slug": "vangl2",
        "symbol": "VANGL2",
        "hgnc": "HGNC:15511",
        "name": "VANGL planar cell polarity protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vangl2"
      },
      {
        "slug": "b3galnt2",
        "symbol": "B3GALNT2",
        "hgnc": "HGNC:28596",
        "name": "beta-1,3-N-acetylgalactosaminyltransferase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b3galnt2"
      },
      {
        "slug": "bub1",
        "symbol": "BUB1",
        "hgnc": "HGNC:1148",
        "name": "BUB1 mitotic checkpoint serine/threonine kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bub1"
      },
      {
        "slug": "bub1b",
        "symbol": "BUB1B",
        "hgnc": "HGNC:1149",
        "name": "BUB1 mitotic checkpoint serine/threonine kinase B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bub1b"
      },
      {
        "slug": "bub3",
        "symbol": "BUB3",
        "hgnc": "HGNC:1151",
        "name": "BUB3 mitotic checkpoint protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bub3"
      },
      {
        "slug": "cdon",
        "symbol": "CDON",
        "hgnc": "HGNC:17104",
        "name": "cell adhesion associated, oncogene regulated",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cdon"
      },
      {
        "slug": "cep57",
        "symbol": "CEP57",
        "hgnc": "HGNC:30794",
        "name": "centrosomal protein 57",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep57"
      },
      {
        "slug": "chd7",
        "symbol": "CHD7",
        "hgnc": "HGNC:20626",
        "name": "chromodomain helicase DNA binding protein 7",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/chd7"
      },
      {
        "slug": "cripto",
        "symbol": "CRIPTO",
        "hgnc": "HGNC:11701",
        "name": "cripto, EGF-CFC family member",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cripto"
      },
      {
        "slug": "crppa",
        "symbol": "CRPPA",
        "hgnc": "HGNC:37276",
        "name": "CDP-L-ribitol pyrophosphorylase A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crppa"
      },
      {
        "slug": "dhcr7",
        "symbol": "DHCR7",
        "hgnc": "HGNC:2860",
        "name": "7-dehydrocholesterol reductase",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dhcr7"
      },
      {
        "slug": "disp1",
        "symbol": "DISP1",
        "hgnc": "HGNC:19711",
        "name": "dispatched RND transporter family member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/disp1"
      },
      {
        "slug": "dll1",
        "symbol": "DLL1",
        "hgnc": "HGNC:2908",
        "name": "delta like canonical Notch ligand 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dll1"
      },
      {
        "slug": "fgf8",
        "symbol": "FGF8",
        "hgnc": "HGNC:3686",
        "name": "fibroblast growth factor 8",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgf8"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "hgnc": "HGNC:3688",
        "name": "fibroblast growth factor receptor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr1"
      },
      {
        "slug": "fgfr3",
        "symbol": "FGFR3",
        "hgnc": "HGNC:3690",
        "name": "fibroblast growth factor receptor 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr3"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "hgnc": "HGNC:17997",
        "name": "fukutin related protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fkrp"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "hgnc": "HGNC:3622",
        "name": "fukutin",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fktn"
      },
      {
        "slug": "foxh1",
        "symbol": "FOXH1",
        "hgnc": "HGNC:3814",
        "name": "forkhead box H1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxh1"
      },
      {
        "slug": "gas1",
        "symbol": "GAS1",
        "hgnc": "HGNC:4165",
        "name": "growth arrest specific 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gas1"
      },
      {
        "slug": "gli2",
        "symbol": "GLI2",
        "hgnc": "HGNC:4318",
        "name": "GLI family zinc finger 2",
        "frequency": "occasional",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/gli2"
      },
      {
        "slug": "gli3",
        "symbol": "GLI3",
        "hgnc": "HGNC:4319",
        "name": "GLI family zinc finger 3",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gli3"
      },
      {
        "slug": "gmppb",
        "symbol": "GMPPB",
        "hgnc": "HGNC:22932",
        "name": "GDP-mannose pyrophosphorylase B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gmppb"
      },
      {
        "slug": "hoxa2",
        "symbol": "HOXA2",
        "hgnc": "HGNC:5103",
        "name": "homeobox A2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hoxa2"
      },
      {
        "slug": "l1cam",
        "symbol": "L1CAM",
        "hgnc": "HGNC:6470",
        "name": "L1 cell adhesion molecule",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/l1cam"
      },
      {
        "slug": "large1",
        "symbol": "LARGE1",
        "hgnc": "HGNC:6511",
        "name": "LARGE xylosyl- and glucuronyltransferase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/large1"
      },
      {
        "slug": "nodal",
        "symbol": "NODAL",
        "hgnc": "HGNC:7865",
        "name": "nodal growth differentiation factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nodal"
      },
      {
        "slug": "pomgnt1",
        "symbol": "POMGNT1",
        "hgnc": "HGNC:19139",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomgnt1"
      },
      {
        "slug": "pomt1",
        "symbol": "POMT1",
        "hgnc": "HGNC:9202",
        "name": "protein O-mannosyltransferase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomt1"
      },
      {
        "slug": "pomt2",
        "symbol": "POMT2",
        "hgnc": "HGNC:19743",
        "name": "protein O-mannosyltransferase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomt2"
      },
      {
        "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": "rb1",
        "symbol": "RB1",
        "hgnc": "HGNC:9884",
        "name": "RB transcriptional corepressor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rb1"
      },
      {
        "slug": "sall1",
        "symbol": "SALL1",
        "hgnc": "HGNC:10524",
        "name": "spalt like transcription factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sall1"
      },
      {
        "slug": "sema3e",
        "symbol": "SEMA3E",
        "hgnc": "HGNC:10727",
        "name": "semaphorin 3E",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sema3e"
      },
      {
        "slug": "six3",
        "symbol": "SIX3",
        "hgnc": "HGNC:10889",
        "name": "SIX homeobox 3",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/six3"
      },
      {
        "slug": "sox2",
        "symbol": "SOX2",
        "hgnc": "HGNC:11195",
        "name": "SRY-box transcription factor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox2"
      },
      {
        "slug": "sufu",
        "symbol": "SUFU",
        "hgnc": "HGNC:16466",
        "name": "SUFU negative regulator of hedgehog signaling",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sufu"
      },
      {
        "slug": "tbc1d32",
        "symbol": "TBC1D32",
        "hgnc": "HGNC:21485",
        "name": "TBC1 domain family member 32",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbc1d32"
      },
      {
        "slug": "tgif1",
        "symbol": "TGIF1",
        "hgnc": "HGNC:11776",
        "name": "TGFB induced factor homeobox 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgif1"
      },
      {
        "slug": "trip13",
        "symbol": "TRIP13",
        "hgnc": "HGNC:12307",
        "name": "thyroid hormone receptor interactor 13",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trip13"
      },
      {
        "slug": "wdr81",
        "symbol": "WDR81",
        "hgnc": "HGNC:26600",
        "name": "WD repeat domain 81",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr81"
      },
      {
        "slug": "zic2",
        "symbol": "ZIC2",
        "hgnc": "HGNC:12873",
        "name": "Zic family zinc finger 2",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/zic2"
      },
      {
        "slug": "foxa2",
        "symbol": "FOXA2",
        "hgnc": "HGNC:5022",
        "name": "forkhead box A2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxa2"
      },
      {
        "slug": "hesx1",
        "symbol": "HESX1",
        "hgnc": "HGNC:4877",
        "name": "HESX homeobox 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hesx1"
      },
      {
        "slug": "lhx4",
        "symbol": "LHX4",
        "hgnc": "HGNC:21734",
        "name": "LIM homeobox 4",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lhx4"
      },
      {
        "slug": "pou1f1",
        "symbol": "POU1F1",
        "hgnc": "HGNC:9210",
        "name": "POU class 1 homeobox 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pou1f1"
      },
      {
        "slug": "prop1",
        "symbol": "PROP1",
        "hgnc": "HGNC:9455",
        "name": "PROP paired-like homeobox 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prop1"
      },
      {
        "slug": "c2cd3",
        "symbol": "C2CD3",
        "hgnc": "HGNC:24564",
        "name": "C2 domain containing 3 centriole elongation regulator",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/c2cd3"
      }
    ]
  }
}