{
  "url": "https://dantelabs.com/traits/profound-intellectual-disability",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "profound-intellectual-disability",
    "id": "HP:0002187",
    "name": "IQ less than 20",
    "label": "Profound intellectual disability",
    "definition": "Profound intellectual disability (ID) is defined as a type of ID characterized by profoundly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) below 20.",
    "synonyms": [
      "Intellectual disability, profound"
    ],
    "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": "intellectual-disability",
        "name": "Intellectual disability",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "adam22",
        "symbol": "ADAM22",
        "hgnc": "HGNC:201",
        "name": "ADAM metallopeptidase domain 22",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adam22"
      },
      {
        "slug": "arv1",
        "symbol": "ARV1",
        "hgnc": "HGNC:29561",
        "name": "ARV1 fatty acid homeostasis modulator",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arv1"
      },
      {
        "slug": "asxl1",
        "symbol": "ASXL1",
        "hgnc": "HGNC:18318",
        "name": "ASXL transcriptional regulator 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/asxl1"
      },
      {
        "slug": "atic",
        "symbol": "ATIC",
        "hgnc": "HGNC:794",
        "name": "5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atic"
      },
      {
        "slug": "atp6v0c",
        "symbol": "ATP6V0C",
        "hgnc": "HGNC:855",
        "name": "ATPase H+ transporting V0 subunit c",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v0c"
      },
      {
        "slug": "atxn7l3",
        "symbol": "ATXN7L3",
        "hgnc": "HGNC:25416",
        "name": "ataxin 7 like 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atxn7l3"
      },
      {
        "slug": "borcs8",
        "symbol": "BORCS8",
        "hgnc": "HGNC:37247",
        "name": "BLOC-1 related complex subunit 8",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/borcs8"
      },
      {
        "slug": "cacna2d1",
        "symbol": "CACNA2D1",
        "hgnc": "HGNC:1399",
        "name": "calcium voltage-gated channel auxiliary subunit alpha2delta 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna2d1"
      },
      {
        "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": "dhrsx",
        "symbol": "DHRSX",
        "hgnc": "HGNC:18399",
        "name": "dehydrogenase/reductase X-linked",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhrsx"
      },
      {
        "slug": "dmxl2",
        "symbol": "DMXL2",
        "hgnc": "HGNC:2938",
        "name": "Dmx like 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dmxl2"
      },
      {
        "slug": "dph5",
        "symbol": "DPH5",
        "hgnc": "HGNC:24270",
        "name": "diphthamide biosynthesis 5",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dph5"
      },
      {
        "slug": "elovl4",
        "symbol": "ELOVL4",
        "hgnc": "HGNC:14415",
        "name": "ELOVL fatty acid elongase 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/elovl4"
      },
      {
        "slug": "far1",
        "symbol": "FAR1",
        "hgnc": "HGNC:26222",
        "name": "fatty acyl-CoA reductase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/far1"
      },
      {
        "slug": "fdxr",
        "symbol": "FDXR",
        "hgnc": "HGNC:3642",
        "name": "ferredoxin reductase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fdxr"
      },
      {
        "slug": "fgf12",
        "symbol": "FGF12",
        "hgnc": "HGNC:3668",
        "name": "fibroblast growth factor 12",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgf12"
      },
      {
        "slug": "gad1",
        "symbol": "GAD1",
        "hgnc": "HGNC:4092",
        "name": "glutamate decarboxylase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gad1"
      },
      {
        "slug": "gtpbp2",
        "symbol": "GTPBP2",
        "hgnc": "HGNC:4670",
        "name": "GTP binding protein 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtpbp2"
      },
      {
        "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": "jkamp",
        "symbol": "JKAMP",
        "hgnc": "HGNC:20184",
        "name": "JNK1/MAPK8 associated membrane protein",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jkamp"
      },
      {
        "slug": "large1",
        "symbol": "LARGE1",
        "hgnc": "HGNC:6511",
        "name": "LARGE xylosyl- and glucuronyltransferase 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/large1"
      },
      {
        "slug": "mccc1",
        "symbol": "MCCC1",
        "hgnc": "HGNC:6936",
        "name": "methylcrotonyl-CoA carboxylase subunit 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mccc1"
      },
      {
        "slug": "mecp2",
        "symbol": "MECP2",
        "hgnc": "HGNC:6990",
        "name": "methyl-CpG binding protein 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mecp2"
      },
      {
        "slug": "med23",
        "symbol": "MED23",
        "hgnc": "HGNC:2372",
        "name": "mediator complex subunit 23",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/med23"
      },
      {
        "slug": "mrap",
        "symbol": "MRAP",
        "hgnc": "HGNC:1304",
        "name": "melanocortin 2 receptor accessory protein",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mrap"
      },
      {
        "slug": "napb",
        "symbol": "NAPB",
        "hgnc": "HGNC:15751",
        "name": "NSF attachment protein beta",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/napb"
      },
      {
        "slug": "nde1",
        "symbol": "NDE1",
        "hgnc": "HGNC:17619",
        "name": "nudE neurodevelopment protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nde1"
      },
      {
        "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": "nup133",
        "symbol": "NUP133",
        "hgnc": "HGNC:18016",
        "name": "nucleoporin 133",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nup133"
      },
      {
        "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": "pigg",
        "symbol": "PIGG",
        "hgnc": "HGNC:25985",
        "name": "phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigg"
      },
      {
        "slug": "prune1",
        "symbol": "PRUNE1",
        "hgnc": "HGNC:13420",
        "name": "prune exopolyphosphatase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prune1"
      },
      {
        "slug": "rnf113a",
        "symbol": "RNF113A",
        "hgnc": "HGNC:12974",
        "name": "ring finger protein 113A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnf113a"
      },
      {
        "slug": "rnf13",
        "symbol": "RNF13",
        "hgnc": "HGNC:10057",
        "name": "ring finger protein 13",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rnf13"
      },
      {
        "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": "scn1a",
        "symbol": "SCN1A",
        "hgnc": "HGNC:10585",
        "name": "sodium voltage-gated channel alpha subunit 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn1a"
      },
      {
        "slug": "sptan1",
        "symbol": "SPTAN1",
        "hgnc": "HGNC:11273",
        "name": "spectrin alpha, non-erythrocytic 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptan1"
      },
      {
        "slug": "stra6",
        "symbol": "STRA6",
        "hgnc": "HGNC:30650",
        "name": "signaling receptor and transporter of retinol STRA6",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stra6"
      },
      {
        "slug": "stxbp1",
        "symbol": "STXBP1",
        "hgnc": "HGNC:11444",
        "name": "syntaxin binding protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stxbp1"
      },
      {
        "slug": "synj1",
        "symbol": "SYNJ1",
        "hgnc": "HGNC:11503",
        "name": "synaptojanin 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/synj1"
      },
      {
        "slug": "tbck",
        "symbol": "TBCK",
        "hgnc": "HGNC:28261",
        "name": "TBC1 domain containing kinase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbck"
      },
      {
        "slug": "thap11",
        "symbol": "THAP11",
        "hgnc": "HGNC:23194",
        "name": "THAP domain containing 11",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/thap11"
      },
      {
        "slug": "trappc4",
        "symbol": "TRAPPC4",
        "hgnc": "HGNC:19943",
        "name": "trafficking protein particle complex subunit 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trappc4"
      },
      {
        "slug": "ubtf",
        "symbol": "UBTF",
        "hgnc": "HGNC:12511",
        "name": "upstream binding transcription factor",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ubtf"
      },
      {
        "slug": "washc4",
        "symbol": "WASHC4",
        "hgnc": "HGNC:29174",
        "name": "WASH complex subunit 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/washc4"
      },
      {
        "slug": "wdr45b",
        "symbol": "WDR45B",
        "hgnc": "HGNC:25072",
        "name": "WD repeat domain 45B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr45b"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "hgnc": "HGNC:225",
        "name": "adenosine deaminase RNA specific",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adar"
      },
      {
        "slug": "ap1s2",
        "symbol": "AP1S2",
        "hgnc": "HGNC:560",
        "name": "adaptor related protein complex 1 subunit sigma 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ap1s2"
      },
      {
        "slug": "atp6v0a2",
        "symbol": "ATP6V0A2",
        "hgnc": "HGNC:18481",
        "name": "ATPase H+ transporting V0 subunit a2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v0a2"
      },
      {
        "slug": "atp6v1a",
        "symbol": "ATP6V1A",
        "hgnc": "HGNC:851",
        "name": "ATPase H+ transporting V1 subunit A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v1a"
      },
      {
        "slug": "atp6v1e1",
        "symbol": "ATP6V1E1",
        "hgnc": "HGNC:857",
        "name": "ATPase H+ transporting V1 subunit E1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v1e1"
      },
      {
        "slug": "diaph1",
        "symbol": "DIAPH1",
        "hgnc": "HGNC:2876",
        "name": "diaphanous related formin 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/diaph1"
      },
      {
        "slug": "fgfr3",
        "symbol": "FGFR3",
        "hgnc": "HGNC:3690",
        "name": "fibroblast growth factor receptor 3",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/fgfr3"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "hgnc": "HGNC:18873",
        "name": "interferon induced with helicase C domain 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ifih1"
      },
      {
        "slug": "lsm11",
        "symbol": "LSM11",
        "hgnc": "HGNC:30860",
        "name": "LSM11, U7 small nuclear RNA associated",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lsm11"
      },
      {
        "slug": "pigu",
        "symbol": "PIGU",
        "hgnc": "HGNC:15791",
        "name": "phosphatidylinositol glycan anchor biosynthesis class U",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigu"
      },
      {
        "slug": "prps1",
        "symbol": "PRPS1",
        "hgnc": "HGNC:9462",
        "name": "phosphoribosyl pyrophosphate synthetase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prps1"
      },
      {
        "slug": "rnaseh2a",
        "symbol": "RNASEH2A",
        "hgnc": "HGNC:18518",
        "name": "ribonuclease H2 subunit A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnaseh2a"
      },
      {
        "slug": "rnaseh2b",
        "symbol": "RNASEH2B",
        "hgnc": "HGNC:25671",
        "name": "ribonuclease H2 subunit B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnaseh2b"
      },
      {
        "slug": "rnaseh2c",
        "symbol": "RNASEH2C",
        "hgnc": "HGNC:24116",
        "name": "ribonuclease H2 subunit C",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnaseh2c"
      },
      {
        "slug": "rnu7-1",
        "symbol": "RNU7-1",
        "hgnc": "HGNC:34033",
        "name": "RNA, U7 small nuclear 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu7-1"
      },
      {
        "slug": "samhd1",
        "symbol": "SAMHD1",
        "hgnc": "HGNC:15925",
        "name": "SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/samhd1"
      },
      {
        "slug": "slc39a8",
        "symbol": "SLC39A8",
        "hgnc": "HGNC:20862",
        "name": "solute carrier family 39 member 8",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/slc39a8"
      },
      {
        "slug": "slc9a6",
        "symbol": "SLC9A6",
        "hgnc": "HGNC:11079",
        "name": "solute carrier family 9 member A6",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc9a6"
      },
      {
        "slug": "trex1",
        "symbol": "TREX1",
        "hgnc": "HGNC:12269",
        "name": "three prime repair exonuclease 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/trex1"
      },
      {
        "slug": "asxl3",
        "symbol": "ASXL3",
        "hgnc": "HGNC:29357",
        "name": "ASXL transcriptional regulator 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/asxl3"
      },
      {
        "slug": "clic2",
        "symbol": "CLIC2",
        "hgnc": "HGNC:2063",
        "name": "CLIC family member 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/clic2"
      },
      {
        "slug": "dpm3",
        "symbol": "DPM3",
        "hgnc": "HGNC:3007",
        "name": "dolichyl-phosphate mannosyltransferase subunit 3, regulatory",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dpm3"
      },
      {
        "slug": "emc1",
        "symbol": "EMC1",
        "hgnc": "HGNC:28957",
        "name": "ER membrane protein complex subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/emc1"
      },
      {
        "slug": "exosc5",
        "symbol": "EXOSC5",
        "hgnc": "HGNC:24662",
        "name": "exosome component 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/exosc5"
      },
      {
        "slug": "kcnj6",
        "symbol": "KCNJ6",
        "hgnc": "HGNC:6267",
        "name": "potassium inwardly rectifying channel subfamily J member 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnj6"
      },
      {
        "slug": "lonp1",
        "symbol": "LONP1",
        "hgnc": "HGNC:9479",
        "name": "lon peptidase 1, mitochondrial",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lonp1"
      },
      {
        "slug": "nacc1",
        "symbol": "NACC1",
        "hgnc": "HGNC:20967",
        "name": "nucleus accumbens associated 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nacc1"
      },
      {
        "slug": "ngly1",
        "symbol": "NGLY1",
        "hgnc": "HGNC:17646",
        "name": "N-glycanase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ngly1"
      },
      {
        "slug": "pdha1",
        "symbol": "PDHA1",
        "hgnc": "HGNC:8806",
        "name": "pyruvate dehydrogenase E1 subunit alpha 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdha1"
      },
      {
        "slug": "pus3",
        "symbol": "PUS3",
        "hgnc": "HGNC:25461",
        "name": "pseudouridine synthase 3",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pus3"
      },
      {
        "slug": "scn8a",
        "symbol": "SCN8A",
        "hgnc": "HGNC:10596",
        "name": "sodium voltage-gated channel alpha subunit 8",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn8a"
      },
      {
        "slug": "setd1b",
        "symbol": "SETD1B",
        "hgnc": "HGNC:29187",
        "name": "SET domain containing 1B, histone lysine methyltransferase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/setd1b"
      },
      {
        "slug": "slc1a2",
        "symbol": "SLC1A2",
        "hgnc": "HGNC:10940",
        "name": "solute carrier family 1 member 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc1a2"
      },
      {
        "slug": "tbc1d20",
        "symbol": "TBC1D20",
        "hgnc": "HGNC:16133",
        "name": "TBC1 domain family member 20",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbc1d20"
      },
      {
        "slug": "tbcd",
        "symbol": "TBCD",
        "hgnc": "HGNC:11581",
        "name": "tubulin folding cofactor D",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbcd"
      },
      {
        "slug": "unc13a",
        "symbol": "UNC13A",
        "hgnc": "HGNC:23150",
        "name": "unc-13 homolog A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/unc13a"
      },
      {
        "slug": "dpyd",
        "symbol": "DPYD",
        "hgnc": "HGNC:3012",
        "name": "dihydropyrimidine dehydrogenase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dpyd"
      },
      {
        "slug": "grin1",
        "symbol": "GRIN1",
        "hgnc": "HGNC:4584",
        "name": "glutamate ionotropic receptor NMDA type subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grin1"
      },
      {
        "slug": "pafah1b1",
        "symbol": "PAFAH1B1",
        "hgnc": "HGNC:8574",
        "name": "platelet activating factor acetylhydrolase 1b regulatory subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pafah1b1"
      },
      {
        "slug": "pcdh19",
        "symbol": "PCDH19",
        "hgnc": "HGNC:14270",
        "name": "protocadherin 19",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pcdh19"
      },
      {
        "slug": "wars2",
        "symbol": "WARS2",
        "hgnc": "HGNC:12730",
        "name": "tryptophanyl tRNA synthetase 2, mitochondrial",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wars2"
      },
      {
        "slug": "chd8",
        "symbol": "CHD8",
        "hgnc": "HGNC:20153",
        "name": "chromodomain helicase DNA binding protein 8",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chd8"
      },
      {
        "slug": "sms",
        "symbol": "SMS",
        "hgnc": "HGNC:11123",
        "name": "spermine synthase",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sms"
      },
      {
        "slug": "aimp2",
        "symbol": "AIMP2",
        "hgnc": "HGNC:20609",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aimp2"
      },
      {
        "slug": "bub1b",
        "symbol": "BUB1B",
        "hgnc": "HGNC:1149",
        "name": "BUB1 mitotic checkpoint serine/threonine kinase B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bub1b"
      },
      {
        "slug": "cdkl5",
        "symbol": "CDKL5",
        "hgnc": "HGNC:11411",
        "name": "cyclin dependent kinase like 5",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdkl5"
      },
      {
        "slug": "crppa",
        "symbol": "CRPPA",
        "hgnc": "HGNC:37276",
        "name": "CDP-L-ribitol pyrophosphorylase A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crppa"
      },
      {
        "slug": "ercc6",
        "symbol": "ERCC6",
        "hgnc": "HGNC:3438",
        "name": "ERCC excision repair 6, chromatin remodeling factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc6"
      },
      {
        "slug": "fh",
        "symbol": "FH",
        "hgnc": "HGNC:3700",
        "name": "fumarate hydratase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fh"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "hgnc": "HGNC:17997",
        "name": "fukutin related protein",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fkrp"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "hgnc": "HGNC:3622",
        "name": "fukutin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fktn"
      },
      {
        "slug": "guf1",
        "symbol": "GUF1",
        "hgnc": "HGNC:25799",
        "name": "GTP binding elongation factor GUF1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/guf1"
      },
      {
        "slug": "hspd1",
        "symbol": "HSPD1",
        "hgnc": "HGNC:5261",
        "name": "heat shock protein family D (Hsp60) member 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hspd1"
      },
      {
        "slug": "ids",
        "symbol": "IDS",
        "hgnc": "HGNC:5389",
        "name": "iduronate 2-sulfatase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ids"
      },
      {
        "slug": "ier3ip1",
        "symbol": "IER3IP1",
        "hgnc": "HGNC:18550",
        "name": "immediate early response 3 interacting protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ier3ip1"
      },
      {
        "slug": "ocln",
        "symbol": "OCLN",
        "hgnc": "HGNC:8104",
        "name": "occludin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ocln"
      },
      {
        "slug": "ofd1",
        "symbol": "OFD1",
        "hgnc": "HGNC:2567",
        "name": "OFD1 centriole and centriolar satellite protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ofd1"
      },
      {
        "slug": "pcdh12",
        "symbol": "PCDH12",
        "hgnc": "HGNC:8657",
        "name": "protocadherin 12",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pcdh12"
      },
      {
        "slug": "pigp",
        "symbol": "PIGP",
        "hgnc": "HGNC:3046",
        "name": "phosphatidylinositol glycan anchor biosynthesis class P",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigp"
      },
      {
        "slug": "pik3r2",
        "symbol": "PIK3R2",
        "hgnc": "HGNC:8980",
        "name": "phosphoinositide-3-kinase regulatory subunit 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3r2"
      },
      {
        "slug": "pomgnt1",
        "symbol": "POMGNT1",
        "hgnc": "HGNC:19139",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomgnt1"
      },
      {
        "slug": "pomt1",
        "symbol": "POMT1",
        "hgnc": "HGNC:9202",
        "name": "protein O-mannosyltransferase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomt1"
      },
      {
        "slug": "pomt2",
        "symbol": "POMT2",
        "hgnc": "HGNC:19743",
        "name": "protein O-mannosyltransferase 2",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pomt2"
      },
      {
        "slug": "rab18",
        "symbol": "RAB18",
        "hgnc": "HGNC:14244",
        "name": "RAB18, member RAS oncogene family",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rab18"
      },
      {
        "slug": "sepsecs",
        "symbol": "SEPSECS",
        "hgnc": "HGNC:30605",
        "name": "Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sepsecs"
      },
      {
        "slug": "st3gal3",
        "symbol": "ST3GAL3",
        "hgnc": "HGNC:10866",
        "name": "ST3 beta-galactoside alpha-2,3-sialyltransferase 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/st3gal3"
      },
      {
        "slug": "ugp2",
        "symbol": "UGP2",
        "hgnc": "HGNC:12527",
        "name": "UDP-glucose pyrophosphorylase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ugp2"
      },
      {
        "slug": "unc80",
        "symbol": "UNC80",
        "hgnc": "HGNC:26582",
        "name": "unc-80 subunit of NALCN channel complex",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/unc80"
      },
      {
        "slug": "vars1",
        "symbol": "VARS1",
        "hgnc": "HGNC:12651",
        "name": "valyl-tRNA synthetase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vars1"
      },
      {
        "slug": "vps53",
        "symbol": "VPS53",
        "hgnc": "HGNC:25608",
        "name": "VPS53 subunit of GARP complex",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps53"
      },
      {
        "slug": "znhit3",
        "symbol": "ZNHIT3",
        "hgnc": "HGNC:12309",
        "name": "zinc finger HIT-type containing 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znhit3"
      }
    ]
  }
}