{
  "url": "https://dantelabs.com/traits/epileptic-encephalopathy",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "epileptic-encephalopathy",
    "id": "HP:0200134",
    "name": "Epileptic encephalopathy",
    "definition": "A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.",
    "synonyms": [
      "Convulsive encephalopathy"
    ],
    "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": "encephalopathy",
        "name": "Encephalopathy",
        "url": "https://dantelabs.com/traits/encephalopathy"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "abat",
        "symbol": "ABAT",
        "hgnc": "HGNC:23",
        "name": "4-aminobutyrate aminotransferase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abat"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "hgnc": "HGNC:14561",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/arhgef9"
      },
      {
        "slug": "arv1",
        "symbol": "ARV1",
        "hgnc": "HGNC:29561",
        "name": "ARV1 fatty acid homeostasis modulator",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arv1"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "hgnc": "HGNC:18060",
        "name": "aristaless related homeobox",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/arx"
      },
      {
        "slug": "bola3",
        "symbol": "BOLA3",
        "hgnc": "HGNC:24415",
        "name": "bolA family member 3",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/bola3"
      },
      {
        "slug": "cacna1a",
        "symbol": "CACNA1A",
        "hgnc": "HGNC:1388",
        "name": "calcium voltage-gated channel subunit alpha1 A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna1a"
      },
      {
        "slug": "cacna1b",
        "symbol": "CACNA1B",
        "hgnc": "HGNC:1389",
        "name": "calcium voltage-gated channel subunit alpha1 B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna1b"
      },
      {
        "slug": "cad",
        "symbol": "CAD",
        "hgnc": "HGNC:1424",
        "name": "carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cad"
      },
      {
        "slug": "cars2",
        "symbol": "CARS2",
        "hgnc": "HGNC:25695",
        "name": "cysteinyl-tRNA synthetase 2, mitochondrial",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cars2"
      },
      {
        "slug": "chka",
        "symbol": "CHKA",
        "hgnc": "HGNC:1937",
        "name": "choline kinase alpha",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chka"
      },
      {
        "slug": "clcn4",
        "symbol": "CLCN4",
        "hgnc": "HGNC:2022",
        "name": "Cl-/H+ antiporter 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/clcn4"
      },
      {
        "slug": "cplx1",
        "symbol": "CPLX1",
        "hgnc": "HGNC:2309",
        "name": "complexin 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cplx1"
      },
      {
        "slug": "dennd5a",
        "symbol": "DENND5A",
        "hgnc": "HGNC:19344",
        "name": "DENN domain containing 5A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dennd5a"
      },
      {
        "slug": "dhdds",
        "symbol": "DHDDS",
        "hgnc": "HGNC:20603",
        "name": "dehydrodolichyl diphosphate synthase subunit",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhdds"
      },
      {
        "slug": "dnm1",
        "symbol": "DNM1",
        "hgnc": "HGNC:2972",
        "name": "dynamin 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnm1"
      },
      {
        "slug": "dock7",
        "symbol": "DOCK7",
        "hgnc": "HGNC:19190",
        "name": "dedicator of cytokinesis 7",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dock7"
      },
      {
        "slug": "eef1a2",
        "symbol": "EEF1A2",
        "hgnc": "HGNC:3192",
        "name": "eukaryotic translation elongation factor 1 alpha 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eef1a2"
      },
      {
        "slug": "fgf12",
        "symbol": "FGF12",
        "hgnc": "HGNC:3668",
        "name": "fibroblast growth factor 12",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgf12"
      },
      {
        "slug": "gabbr2",
        "symbol": "GABBR2",
        "hgnc": "HGNC:4507",
        "name": "gamma-aminobutyric acid type B receptor subunit 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabbr2"
      },
      {
        "slug": "gabrb1",
        "symbol": "GABRB1",
        "hgnc": "HGNC:4081",
        "name": "gamma-aminobutyric acid type A receptor subunit beta1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabrb1"
      },
      {
        "slug": "gabrb2",
        "symbol": "GABRB2",
        "hgnc": "HGNC:4082",
        "name": "gamma-aminobutyric acid type A receptor subunit beta2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabrb2"
      },
      {
        "slug": "gabrg2",
        "symbol": "GABRG2",
        "hgnc": "HGNC:4087",
        "name": "gamma-aminobutyric acid type A receptor subunit gamma2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabrg2"
      },
      {
        "slug": "gls",
        "symbol": "GLS",
        "hgnc": "HGNC:4331",
        "name": "glutaminase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gls"
      },
      {
        "slug": "glul",
        "symbol": "GLUL",
        "hgnc": "HGNC:4341",
        "name": "glutamate-ammonia ligase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/glul"
      },
      {
        "slug": "gnao1",
        "symbol": "GNAO1",
        "hgnc": "HGNC:4389",
        "name": "G protein subunit alpha o1",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/gnao1"
      },
      {
        "slug": "grin1",
        "symbol": "GRIN1",
        "hgnc": "HGNC:4584",
        "name": "glutamate ionotropic receptor NMDA type subunit 1",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/grin1"
      },
      {
        "slug": "grin2d",
        "symbol": "GRIN2D",
        "hgnc": "HGNC:4588",
        "name": "glutamate ionotropic receptor NMDA type subunit 2D",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grin2d"
      },
      {
        "slug": "kcna2",
        "symbol": "KCNA2",
        "hgnc": "HGNC:6220",
        "name": "potassium voltage-gated channel subfamily A member 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcna2"
      },
      {
        "slug": "kcnc2",
        "symbol": "KCNC2",
        "hgnc": "HGNC:6234",
        "name": "potassium voltage-gated channel subfamily C member 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnc2"
      },
      {
        "slug": "kcnq2",
        "symbol": "KCNQ2",
        "hgnc": "HGNC:6296",
        "name": "potassium voltage-gated channel subfamily Q member 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kcnq2"
      },
      {
        "slug": "kcnt1",
        "symbol": "KCNT1",
        "hgnc": "HGNC:18865",
        "name": "potassium sodium-activated channel subfamily T member 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnt1"
      },
      {
        "slug": "kcnt2",
        "symbol": "KCNT2",
        "hgnc": "HGNC:18866",
        "name": "potassium sodium-activated channel subfamily T member 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnt2"
      },
      {
        "slug": "mast3",
        "symbol": "MAST3",
        "hgnc": "HGNC:19036",
        "name": "microtubule associated serine/threonine kinase 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mast3"
      },
      {
        "slug": "msl2",
        "symbol": "MSL2",
        "hgnc": "HGNC:25544",
        "name": "MSL complex subunit 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/msl2"
      },
      {
        "slug": "napb",
        "symbol": "NAPB",
        "hgnc": "HGNC:15751",
        "name": "NSF attachment protein beta",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/napb"
      },
      {
        "slug": "necap1",
        "symbol": "NECAP1",
        "hgnc": "HGNC:24539",
        "name": "NECAP endocytosis associated 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/necap1"
      },
      {
        "slug": "nsf",
        "symbol": "NSF",
        "hgnc": "HGNC:8016",
        "name": "N-ethylmaleimide sensitive factor, vesicle fusing ATPase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nsf"
      },
      {
        "slug": "nus1",
        "symbol": "NUS1",
        "hgnc": "HGNC:21042",
        "name": "NUS1 dehydrodolichyl diphosphate synthase subunit",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nus1"
      },
      {
        "slug": "piga",
        "symbol": "PIGA",
        "hgnc": "HGNC:8957",
        "name": "phosphatidylinositol glycan anchor biosynthesis class A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/piga"
      },
      {
        "slug": "plcb1",
        "symbol": "PLCB1",
        "hgnc": "HGNC:15917",
        "name": "phospholipase C beta 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plcb1"
      },
      {
        "slug": "polr1a",
        "symbol": "POLR1A",
        "hgnc": "HGNC:17264",
        "name": "RNA polymerase I subunit A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polr1a"
      },
      {
        "slug": "rnu2-2",
        "symbol": "RNU2-2",
        "hgnc": "HGNC:10152",
        "name": "RNA, U2 small nuclear 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu2-2"
      },
      {
        "slug": "scn2a",
        "symbol": "SCN2A",
        "hgnc": "HGNC:10588",
        "name": "sodium voltage-gated channel alpha subunit 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/scn2a"
      },
      {
        "slug": "slc13a5",
        "symbol": "SLC13A5",
        "hgnc": "HGNC:23089",
        "name": "solute carrier family 13 member 5",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc13a5"
      },
      {
        "slug": "slc1a2",
        "symbol": "SLC1A2",
        "hgnc": "HGNC:10940",
        "name": "solute carrier family 1 member 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc1a2"
      },
      {
        "slug": "slc25a22",
        "symbol": "SLC25A22",
        "hgnc": "HGNC:19954",
        "name": "solute carrier family 25 member 22",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/slc25a22"
      },
      {
        "slug": "slc35a2",
        "symbol": "SLC35A2",
        "hgnc": "HGNC:11022",
        "name": "solute carrier family 35 member A2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc35a2"
      },
      {
        "slug": "st3gal3",
        "symbol": "ST3GAL3",
        "hgnc": "HGNC:10866",
        "name": "ST3 beta-galactoside alpha-2,3-sialyltransferase 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/st3gal3"
      },
      {
        "slug": "synj1",
        "symbol": "SYNJ1",
        "hgnc": "HGNC:11503",
        "name": "synaptojanin 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/synj1"
      },
      {
        "slug": "tbc1d24",
        "symbol": "TBC1D24",
        "hgnc": "HGNC:29203",
        "name": "TBC1 domain family member 24",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tbc1d24"
      },
      {
        "slug": "trit1",
        "symbol": "TRIT1",
        "hgnc": "HGNC:20286",
        "name": "tRNA isopentenyltransferase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trit1"
      },
      {
        "slug": "uba5",
        "symbol": "UBA5",
        "hgnc": "HGNC:23230",
        "name": "ubiquitin like modifier activating enzyme 5",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/uba5"
      },
      {
        "slug": "wwox",
        "symbol": "WWOX",
        "hgnc": "HGNC:12799",
        "name": "WW domain containing oxidoreductase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wwox"
      },
      {
        "slug": "cacna1e",
        "symbol": "CACNA1E",
        "hgnc": "HGNC:1392",
        "name": "calcium voltage-gated channel subunit alpha1 E",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cacna1e"
      },
      {
        "slug": "cask",
        "symbol": "CASK",
        "hgnc": "HGNC:1497",
        "name": "calcium/calmodulin dependent serine protein kinase",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cask"
      },
      {
        "slug": "cdkl5",
        "symbol": "CDKL5",
        "hgnc": "HGNC:11411",
        "name": "cyclin dependent kinase like 5",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cdkl5"
      },
      {
        "slug": "dmxl2",
        "symbol": "DMXL2",
        "hgnc": "HGNC:2938",
        "name": "Dmx like 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dmxl2"
      },
      {
        "slug": "grm7",
        "symbol": "GRM7",
        "hgnc": "HGNC:4599",
        "name": "glutamate metabotropic receptor 7",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grm7"
      },
      {
        "slug": "kcna1",
        "symbol": "KCNA1",
        "hgnc": "HGNC:6218",
        "name": "potassium voltage-gated channel subfamily A member 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcna1"
      },
      {
        "slug": "kcnh5",
        "symbol": "KCNH5",
        "hgnc": "HGNC:6254",
        "name": "potassium voltage-gated channel subfamily H member 5",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnh5"
      },
      {
        "slug": "lgi1",
        "symbol": "LGI1",
        "hgnc": "HGNC:6572",
        "name": "leucine rich glioma inactivated 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lgi1"
      },
      {
        "slug": "neurod2",
        "symbol": "NEUROD2",
        "hgnc": "HGNC:7763",
        "name": "neuronal differentiation 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/neurod2"
      },
      {
        "slug": "pigp",
        "symbol": "PIGP",
        "hgnc": "HGNC:3046",
        "name": "phosphatidylinositol glycan anchor biosynthesis class P",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pigp"
      },
      {
        "slug": "pigq",
        "symbol": "PIGQ",
        "hgnc": "HGNC:14135",
        "name": "phosphatidylinositol glycan anchor biosynthesis class Q",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigq"
      },
      {
        "slug": "pnkp",
        "symbol": "PNKP",
        "hgnc": "HGNC:9154",
        "name": "polynucleotide kinase 3'-phosphatase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pnkp"
      },
      {
        "slug": "pnpo",
        "symbol": "PNPO",
        "hgnc": "HGNC:30260",
        "name": "pyridoxamine 5'-phosphate oxidase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pnpo"
      },
      {
        "slug": "rhobtb2",
        "symbol": "RHOBTB2",
        "hgnc": "HGNC:18756",
        "name": "Rho related BTB domain containing 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rhobtb2"
      },
      {
        "slug": "scn1b",
        "symbol": "SCN1B",
        "hgnc": "HGNC:10586",
        "name": "sodium voltage-gated channel beta subunit 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/scn1b"
      },
      {
        "slug": "sik1",
        "symbol": "SIK1",
        "hgnc": "HGNC:11142",
        "name": "salt inducible kinase 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sik1"
      },
      {
        "slug": "slc32a1",
        "symbol": "SLC32A1",
        "hgnc": "HGNC:11018",
        "name": "solute carrier family 32 member 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc32a1"
      },
      {
        "slug": "trim8",
        "symbol": "TRIM8",
        "hgnc": "HGNC:15579",
        "name": "tripartite motif containing 8",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trim8"
      },
      {
        "slug": "ugdh",
        "symbol": "UGDH",
        "hgnc": "HGNC:12525",
        "name": "UDP-glucose 6-dehydrogenase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ugdh"
      },
      {
        "slug": "aff3",
        "symbol": "AFF3",
        "hgnc": "HGNC:6473",
        "name": "ALF transcription elongation factor 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aff3"
      },
      {
        "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": "celf2",
        "symbol": "CELF2",
        "hgnc": "HGNC:2550",
        "name": "CUGBP Elav-like family member 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/celf2"
      },
      {
        "slug": "coq4",
        "symbol": "COQ4",
        "hgnc": "HGNC:19693",
        "name": "coenzyme Q4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/coq4"
      },
      {
        "slug": "dpm2",
        "symbol": "DPM2",
        "hgnc": "HGNC:3006",
        "name": "dolichyl-phosphate mannosyltransferase subunit 2, regulatory",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dpm2"
      },
      {
        "slug": "fcsk",
        "symbol": "FCSK",
        "hgnc": "HGNC:29500",
        "name": "fucose kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fcsk"
      },
      {
        "slug": "nrxn1",
        "symbol": "NRXN1",
        "hgnc": "HGNC:8008",
        "name": "neurexin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nrxn1"
      },
      {
        "slug": "pafah1b1",
        "symbol": "PAFAH1B1",
        "hgnc": "HGNC:8574",
        "name": "platelet activating factor acetylhydrolase 1b regulatory subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pafah1b1"
      },
      {
        "slug": "pmpcb",
        "symbol": "PMPCB",
        "hgnc": "HGNC:9119",
        "name": "peptidase, mitochondrial processing subunit beta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pmpcb"
      },
      {
        "slug": "ppp3ca",
        "symbol": "PPP3CA",
        "hgnc": "HGNC:9314",
        "name": "protein phosphatase 3 catalytic subunit alpha",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppp3ca"
      },
      {
        "slug": "rnf13",
        "symbol": "RNF13",
        "hgnc": "HGNC:10057",
        "name": "ring finger protein 13",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rnf13"
      },
      {
        "slug": "slc25a12",
        "symbol": "SLC25A12",
        "hgnc": "HGNC:10982",
        "name": "solute carrier family 25 member 12",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc25a12"
      },
      {
        "slug": "slc38a3",
        "symbol": "SLC38A3",
        "hgnc": "HGNC:18044",
        "name": "solute carrier family 38 member 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc38a3"
      },
      {
        "slug": "znf668",
        "symbol": "ZNF668",
        "hgnc": "HGNC:25821",
        "name": "zinc finger protein 668",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf668"
      },
      {
        "slug": "alg9",
        "symbol": "ALG9",
        "hgnc": "HGNC:15672",
        "name": "ALG9 alpha-1,2-mannosyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg9"
      },
      {
        "slug": "crls1",
        "symbol": "CRLS1",
        "hgnc": "HGNC:16148",
        "name": "cardiolipin synthase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crls1"
      },
      {
        "slug": "dcx",
        "symbol": "DCX",
        "hgnc": "HGNC:2714",
        "name": "doublecortin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dcx"
      },
      {
        "slug": "dpagt1",
        "symbol": "DPAGT1",
        "hgnc": "HGNC:2995",
        "name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dpagt1"
      },
      {
        "slug": "hnrnpr",
        "symbol": "HNRNPR",
        "hgnc": "HGNC:5047",
        "name": "heterogeneous nuclear ribonucleoprotein R",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hnrnpr"
      },
      {
        "slug": "kcnq5",
        "symbol": "KCNQ5",
        "hgnc": "HGNC:6299",
        "name": "potassium voltage-gated channel subfamily Q member 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnq5"
      },
      {
        "slug": "mef2c",
        "symbol": "MEF2C",
        "hgnc": "HGNC:6996",
        "name": "myocyte enhancer factor 2C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mef2c"
      },
      {
        "slug": "slc9a6",
        "symbol": "SLC9A6",
        "hgnc": "HGNC:11079",
        "name": "solute carrier family 9 member A6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc9a6"
      },
      {
        "slug": "stag1",
        "symbol": "STAG1",
        "hgnc": "HGNC:11354",
        "name": "STAG1 cohesin complex component",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stag1"
      },
      {
        "slug": "stxbp1",
        "symbol": "STXBP1",
        "hgnc": "HGNC:11444",
        "name": "syntaxin binding protein 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/stxbp1"
      },
      {
        "slug": "tra2b",
        "symbol": "TRA2B",
        "hgnc": "HGNC:10781",
        "name": "transformer 2 beta homolog",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tra2b"
      },
      {
        "slug": "unc13a",
        "symbol": "UNC13A",
        "hgnc": "HGNC:23150",
        "name": "unc-13 homolog A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/unc13a"
      },
      {
        "slug": "ap2m1",
        "symbol": "AP2M1",
        "hgnc": "HGNC:564",
        "name": "adaptor related protein complex 2 subunit mu 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ap2m1"
      },
      {
        "slug": "chd2",
        "symbol": "CHD2",
        "hgnc": "HGNC:1917",
        "name": "chromodomain helicase DNA binding protein 2",
        "frequency": "very-rare",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/chd2"
      },
      {
        "slug": "grin2a",
        "symbol": "GRIN2A",
        "hgnc": "HGNC:4585",
        "name": "glutamate ionotropic receptor NMDA type subunit 2A",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grin2a"
      },
      {
        "slug": "kmt2e",
        "symbol": "KMT2E",
        "hgnc": "HGNC:18541",
        "name": "lysine methyltransferase 2E (inactive)",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kmt2e"
      },
      {
        "slug": "nexmif",
        "symbol": "NEXMIF",
        "hgnc": "HGNC:29433",
        "name": "neurite extension and migration factor",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nexmif"
      },
      {
        "slug": "scn1a",
        "symbol": "SCN1A",
        "hgnc": "HGNC:10585",
        "name": "sodium voltage-gated channel alpha subunit 1",
        "frequency": "very-rare",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/scn1a"
      },
      {
        "slug": "slc2a1",
        "symbol": "SLC2A1",
        "hgnc": "HGNC:11005",
        "name": "solute carrier family 2 member 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc2a1"
      },
      {
        "slug": "slc6a1",
        "symbol": "SLC6A1",
        "hgnc": "HGNC:11042",
        "name": "solute carrier family 6 member 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc6a1"
      },
      {
        "slug": "syngap1",
        "symbol": "SYNGAP1",
        "hgnc": "HGNC:11497",
        "name": "synaptic Ras GTPase activating protein 1",
        "frequency": "very-rare",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/syngap1"
      },
      {
        "slug": "ubr5",
        "symbol": "UBR5",
        "hgnc": "HGNC:16806",
        "name": "ubiquitin protein ligase E3 component n-recognin 5",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ubr5"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "hgnc": "HGNC:20",
        "name": "alanyl-tRNA synthetase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aars1"
      },
      {
        "slug": "adam22",
        "symbol": "ADAM22",
        "hgnc": "HGNC:201",
        "name": "ADAM metallopeptidase domain 22",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adam22"
      },
      {
        "slug": "ap3b2",
        "symbol": "AP3B2",
        "hgnc": "HGNC:567",
        "name": "adaptor related protein complex 3 subunit beta 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ap3b2"
      },
      {
        "slug": "cacna2d2",
        "symbol": "CACNA2D2",
        "hgnc": "HGNC:1400",
        "name": "calcium voltage-gated channel auxiliary subunit alpha2delta 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna2d2"
      },
      {
        "slug": "cux2",
        "symbol": "CUX2",
        "hgnc": "HGNC:19347",
        "name": "cut like homeobox 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cux2"
      },
      {
        "slug": "cyfip2",
        "symbol": "CYFIP2",
        "hgnc": "HGNC:13760",
        "name": "cytoplasmic FMR1 interacting protein 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyfip2"
      },
      {
        "slug": "frrs1l",
        "symbol": "FRRS1L",
        "hgnc": "HGNC:1362",
        "name": "ferric chelate reductase 1 like",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/frrs1l"
      },
      {
        "slug": "gabra1",
        "symbol": "GABRA1",
        "hgnc": "HGNC:4075",
        "name": "gamma-aminobutyric acid type A receptor subunit alpha1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabra1"
      },
      {
        "slug": "gabrb3",
        "symbol": "GABRB3",
        "hgnc": "HGNC:4083",
        "name": "gamma-aminobutyric acid type A receptor subunit beta3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabrb3"
      },
      {
        "slug": "grin2b",
        "symbol": "GRIN2B",
        "hgnc": "HGNC:4586",
        "name": "glutamate ionotropic receptor NMDA type subunit 2B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grin2b"
      },
      {
        "slug": "guf1",
        "symbol": "GUF1",
        "hgnc": "HGNC:25799",
        "name": "GTP binding elongation factor GUF1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/guf1"
      },
      {
        "slug": "hcn1",
        "symbol": "HCN1",
        "hgnc": "HGNC:4845",
        "name": "hyperpolarization activated cyclic nucleotide gated potassium channel 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hcn1"
      },
      {
        "slug": "hnrnpu",
        "symbol": "HNRNPU",
        "hgnc": "HGNC:5048",
        "name": "heterogeneous nuclear ribonucleoprotein U",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hnrnpu"
      },
      {
        "slug": "kcnb1",
        "symbol": "KCNB1",
        "hgnc": "HGNC:6231",
        "name": "potassium voltage-gated channel subfamily B member 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnb1"
      },
      {
        "slug": "mdh1",
        "symbol": "MDH1",
        "hgnc": "HGNC:6970",
        "name": "malate dehydrogenase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mdh1"
      },
      {
        "slug": "mdh2",
        "symbol": "MDH2",
        "hgnc": "HGNC:6971",
        "name": "malate dehydrogenase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mdh2"
      },
      {
        "slug": "ntrk2",
        "symbol": "NTRK2",
        "hgnc": "HGNC:8032",
        "name": "neurotrophic receptor tyrosine kinase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ntrk2"
      },
      {
        "slug": "pacs2",
        "symbol": "PACS2",
        "hgnc": "HGNC:23794",
        "name": "phosphofurin acidic cluster sorting protein 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pacs2"
      },
      {
        "slug": "pars2",
        "symbol": "PARS2",
        "hgnc": "HGNC:30563",
        "name": "prolyl-tRNA synthetase 2, mitochondrial",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pars2"
      },
      {
        "slug": "phactr1",
        "symbol": "PHACTR1",
        "hgnc": "HGNC:20990",
        "name": "phosphatase and actin regulator 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phactr1"
      },
      {
        "slug": "rogdi",
        "symbol": "ROGDI",
        "hgnc": "HGNC:29478",
        "name": "rogdi atypical leucine zipper",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rogdi"
      },
      {
        "slug": "scn3a",
        "symbol": "SCN3A",
        "hgnc": "HGNC:10590",
        "name": "sodium voltage-gated channel alpha subunit 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn3a"
      },
      {
        "slug": "scn8a",
        "symbol": "SCN8A",
        "hgnc": "HGNC:10596",
        "name": "sodium voltage-gated channel alpha subunit 8",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn8a"
      },
      {
        "slug": "sptan1",
        "symbol": "SPTAN1",
        "hgnc": "HGNC:11273",
        "name": "spectrin alpha, non-erythrocytic 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptan1"
      },
      {
        "slug": "szt2",
        "symbol": "SZT2",
        "hgnc": "HGNC:29040",
        "name": "SZT2 subunit of KICSTOR complex",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/szt2"
      },
      {
        "slug": "twnk",
        "symbol": "TWNK",
        "hgnc": "HGNC:1160",
        "name": "twinkle mtDNA helicase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/twnk"
      }
    ]
  }
}