{
  "url": "https://dantelabs.com/traits/lissencephaly",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "lissencephaly",
    "id": "HP:0001339",
    "name": "Fewer or absent grooves in brain",
    "label": "Lissencephaly",
    "definition": "A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.",
    "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-cortical-gyration",
        "name": "Abnormal cortical gyration",
        "url": "https://dantelabs.com/traits/abnormal-cortical-gyration"
      }
    ],
    "narrower": [
      {
        "slug": "pachygyria",
        "name": "Fewer and broader ridges in brain",
        "genes": 166,
        "url": "https://dantelabs.com/traits/pachygyria"
      },
      {
        "slug": "agyria",
        "name": "Agyria",
        "genes": 20,
        "url": "https://dantelabs.com/traits/agyria"
      },
      {
        "slug": "type-ii-lissencephaly",
        "name": "Type II lissencephaly",
        "genes": 16,
        "url": "https://dantelabs.com/traits/type-ii-lissencephaly"
      },
      {
        "slug": "subcortical-band-heterotopia",
        "name": "Subcortical band heterotopia",
        "genes": 9,
        "url": "https://dantelabs.com/traits/subcortical-band-heterotopia"
      },
      {
        "slug": "microlissencephaly",
        "name": "Microlissencephaly",
        "genes": 6,
        "url": "https://dantelabs.com/traits/microlissencephaly"
      },
      {
        "slug": "4-layered-lissencephaly",
        "name": "4-layered lissencephaly",
        "genes": 3,
        "url": "https://dantelabs.com/traits/4-layered-lissencephaly"
      },
      {
        "slug": "focal-lissencephaly",
        "name": "Focal lissencephaly",
        "genes": 1,
        "url": "https://dantelabs.com/traits/focal-lissencephaly"
      }
    ],
    "genes": [
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "hgnc": "HGNC:144",
        "name": "actin gamma 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/actg1"
      },
      {
        "slug": "apc2",
        "symbol": "APC2",
        "hgnc": "HGNC:24036",
        "name": "APC regulator of Wnt signaling pathway 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/apc2"
      },
      {
        "slug": "camsap1",
        "symbol": "CAMSAP1",
        "hgnc": "HGNC:19946",
        "name": "calmodulin regulated spectrin associated protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/camsap1"
      },
      {
        "slug": "ccdc88a",
        "symbol": "CCDC88A",
        "hgnc": "HGNC:25523",
        "name": "coiled-coil and HOOK domain protein 88A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccdc88a"
      },
      {
        "slug": "cdk5",
        "symbol": "CDK5",
        "hgnc": "HGNC:1774",
        "name": "cyclin dependent kinase 5",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdk5"
      },
      {
        "slug": "crnkl1",
        "symbol": "CRNKL1",
        "hgnc": "HGNC:15762",
        "name": "crooked neck pre-mRNA splicing factor 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crnkl1"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "hgnc": "HGNC:17997",
        "name": "fukutin related protein",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fkrp"
      },
      {
        "slug": "macf1",
        "symbol": "MACF1",
        "hgnc": "HGNC:13664",
        "name": "microtubule actin crosslinking factor 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/macf1"
      },
      {
        "slug": "mpdz",
        "symbol": "MPDZ",
        "hgnc": "HGNC:7208",
        "name": "multiple PDZ domain crumbs cell polarity complex component",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mpdz"
      },
      {
        "slug": "reln",
        "symbol": "RELN",
        "hgnc": "HGNC:9957",
        "name": "reelin",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/reln"
      },
      {
        "slug": "snapin",
        "symbol": "SNAPIN",
        "hgnc": "HGNC:17145",
        "name": "SNAP associated protein",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/snapin"
      },
      {
        "slug": "tmx2",
        "symbol": "TMX2",
        "hgnc": "HGNC:30739",
        "name": "thioredoxin related transmembrane protein 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmx2"
      },
      {
        "slug": "tp73",
        "symbol": "TP73",
        "hgnc": "HGNC:12003",
        "name": "tumor protein p73",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tp73"
      },
      {
        "slug": "actb",
        "symbol": "ACTB",
        "hgnc": "HGNC:132",
        "name": "actin beta",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/actb"
      },
      {
        "slug": "b3galnt2",
        "symbol": "B3GALNT2",
        "hgnc": "HGNC:28596",
        "name": "beta-1,3-N-acetylgalactosaminyltransferase 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b3galnt2"
      },
      {
        "slug": "b4gat1",
        "symbol": "B4GAT1",
        "hgnc": "HGNC:15685",
        "name": "beta-1,4-glucuronyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b4gat1"
      },
      {
        "slug": "col4a1",
        "symbol": "COL4A1",
        "hgnc": "HGNC:2202",
        "name": "collagen type IV alpha 1 chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col4a1"
      },
      {
        "slug": "crppa",
        "symbol": "CRPPA",
        "hgnc": "HGNC:37276",
        "name": "CDP-L-ribitol pyrophosphorylase A",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/crppa"
      },
      {
        "slug": "dag1",
        "symbol": "DAG1",
        "hgnc": "HGNC:2666",
        "name": "dystroglycan 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dag1"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "hgnc": "HGNC:3622",
        "name": "fukutin",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fktn"
      },
      {
        "slug": "hic1",
        "symbol": "HIC1",
        "hgnc": "HGNC:4909",
        "name": "HIC ZBTB transcriptional repressor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hic1"
      },
      {
        "slug": "large1",
        "symbol": "LARGE1",
        "hgnc": "HGNC:6511",
        "name": "LARGE xylosyl- and glucuronyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/large1"
      },
      {
        "slug": "pafah1b1",
        "symbol": "PAFAH1B1",
        "hgnc": "HGNC:8574",
        "name": "platelet activating factor acetylhydrolase 1b regulatory subunit 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pafah1b1"
      },
      {
        "slug": "pomgnt1",
        "symbol": "POMGNT1",
        "hgnc": "HGNC:19139",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
        "frequency": "very-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": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomgnt2"
      },
      {
        "slug": "pomk",
        "symbol": "POMK",
        "hgnc": "HGNC:26267",
        "name": "protein O-mannose kinase",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pomk"
      },
      {
        "slug": "pomt1",
        "symbol": "POMT1",
        "hgnc": "HGNC:9202",
        "name": "protein O-mannosyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomt1"
      },
      {
        "slug": "pomt2",
        "symbol": "POMT2",
        "hgnc": "HGNC:19743",
        "name": "protein O-mannosyltransferase 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomt2"
      },
      {
        "slug": "rab18",
        "symbol": "RAB18",
        "hgnc": "HGNC:14244",
        "name": "RAB18, member RAS oncogene family",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rab18"
      },
      {
        "slug": "rab3gap1",
        "symbol": "RAB3GAP1",
        "hgnc": "HGNC:17063",
        "name": "RAB3 GTPase activating protein catalytic subunit 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rab3gap1"
      },
      {
        "slug": "rab3gap2",
        "symbol": "RAB3GAP2",
        "hgnc": "HGNC:17168",
        "name": "RAB3 GTPase activating non-catalytic protein subunit 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rab3gap2"
      },
      {
        "slug": "rxylt1",
        "symbol": "RXYLT1",
        "hgnc": "HGNC:13530",
        "name": "ribitol xylosyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rxylt1"
      },
      {
        "slug": "tbc1d20",
        "symbol": "TBC1D20",
        "hgnc": "HGNC:16133",
        "name": "TBC1 domain family member 20",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbc1d20"
      },
      {
        "slug": "ywhae",
        "symbol": "YWHAE",
        "hgnc": "HGNC:12851",
        "name": "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ywhae"
      },
      {
        "slug": "atp6v0a2",
        "symbol": "ATP6V0A2",
        "hgnc": "HGNC:18481",
        "name": "ATPase H+ transporting V0 subunit a2",
        "frequency": "frequent",
        "diseases": 1,
        "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": "ctu2",
        "symbol": "CTU2",
        "hgnc": "HGNC:28005",
        "name": "cytosolic thiouridylase subunit 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctu2"
      },
      {
        "slug": "fh",
        "symbol": "FH",
        "hgnc": "HGNC:3700",
        "name": "fumarate hydratase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fh"
      },
      {
        "slug": "fto",
        "symbol": "FTO",
        "hgnc": "HGNC:24678",
        "name": "FTO alpha-ketoglutarate dependent dioxygenase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fto"
      },
      {
        "slug": "nde1",
        "symbol": "NDE1",
        "hgnc": "HGNC:17619",
        "name": "nudE neurodevelopment protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nde1"
      },
      {
        "slug": "psat1",
        "symbol": "PSAT1",
        "hgnc": "HGNC:19129",
        "name": "phosphoserine aminotransferase 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/psat1"
      },
      {
        "slug": "slc25a19",
        "symbol": "SLC25A19",
        "hgnc": "HGNC:14409",
        "name": "solute carrier family 25 member 19",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc25a19"
      },
      {
        "slug": "tuba1a",
        "symbol": "TUBA1A",
        "hgnc": "HGNC:20766",
        "name": "tubulin alpha 1a",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tuba1a"
      },
      {
        "slug": "tubb3",
        "symbol": "TUBB3",
        "hgnc": "HGNC:20772",
        "name": "tubulin beta 3 class III",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tubb3"
      },
      {
        "slug": "dhcr24",
        "symbol": "DHCR24",
        "hgnc": "HGNC:2859",
        "name": "24-dehydrocholesterol reductase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhcr24"
      },
      {
        "slug": "dlk1",
        "symbol": "DLK1",
        "hgnc": "HGNC:2907",
        "name": "delta like non-canonical Notch ligand 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dlk1"
      },
      {
        "slug": "lama2",
        "symbol": "LAMA2",
        "hgnc": "HGNC:6482",
        "name": "laminin subunit alpha 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lama2"
      },
      {
        "slug": "meg3",
        "symbol": "MEG3",
        "hgnc": "HGNC:14575",
        "name": "maternally expressed 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/meg3"
      },
      {
        "slug": "pidd1",
        "symbol": "PIDD1",
        "hgnc": "HGNC:16491",
        "name": "p53-induced death domain protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pidd1"
      },
      {
        "slug": "rtl1",
        "symbol": "RTL1",
        "hgnc": "HGNC:14665",
        "name": "retrotransposon Gag like 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rtl1"
      },
      {
        "slug": "rttn",
        "symbol": "RTTN",
        "hgnc": "HGNC:18654",
        "name": "rotatin",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rttn"
      },
      {
        "slug": "sts",
        "symbol": "STS",
        "hgnc": "HGNC:11425",
        "name": "steroid sulfatase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sts"
      },
      {
        "slug": "vipas39",
        "symbol": "VIPAS39",
        "hgnc": "HGNC:20347",
        "name": "VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vipas39"
      },
      {
        "slug": "vps33b",
        "symbol": "VPS33B",
        "hgnc": "HGNC:12712",
        "name": "VPS33B late endosome and lysosome associated",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps33b"
      },
      {
        "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": "tubb2b",
        "symbol": "TUBB2B",
        "hgnc": "HGNC:30829",
        "name": "tubulin beta 2B class IIb",
        "frequency": "very-rare",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tubb2b"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "hgnc": "HGNC:18060",
        "name": "aristaless related homeobox",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arx"
      },
      {
        "slug": "bltp1",
        "symbol": "BLTP1",
        "hgnc": "HGNC:26953",
        "name": "bridge-like lipid transfer protein family member 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bltp1"
      },
      {
        "slug": "cradd",
        "symbol": "CRADD",
        "hgnc": "HGNC:2340",
        "name": "CARD and death domain containing adaptor protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cradd"
      },
      {
        "slug": "dcx",
        "symbol": "DCX",
        "hgnc": "HGNC:2714",
        "name": "doublecortin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dcx"
      },
      {
        "slug": "katnb1",
        "symbol": "KATNB1",
        "hgnc": "HGNC:6217",
        "name": "katanin regulatory subunit B1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/katnb1"
      },
      {
        "slug": "kif2a",
        "symbol": "KIF2A",
        "hgnc": "HGNC:6318",
        "name": "kinesin family member 2A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif2a"
      },
      {
        "slug": "ocln",
        "symbol": "OCLN",
        "hgnc": "HGNC:8104",
        "name": "occludin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ocln"
      },
      {
        "slug": "osgep",
        "symbol": "OSGEP",
        "hgnc": "HGNC:18028",
        "name": "O-sialoglycoprotein endopeptidase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/osgep"
      },
      {
        "slug": "pex13",
        "symbol": "PEX13",
        "hgnc": "HGNC:8855",
        "name": "peroxisomal biogenesis factor 13",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex13"
      },
      {
        "slug": "phgdh",
        "symbol": "PHGDH",
        "hgnc": "HGNC:8923",
        "name": "phosphoglycerate dehydrogenase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phgdh"
      },
      {
        "slug": "wdr62",
        "symbol": "WDR62",
        "hgnc": "HGNC:24502",
        "name": "WD repeat domain 62",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr62"
      }
    ]
  }
}