{
  "url": "https://dantelabs.com/traits/profound-global-developmental-delay",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "profound-global-developmental-delay",
    "id": "HP:0012736",
    "name": "Profound global developmental delay",
    "definition": "A profound delay in the achievement of motor or mental milestones in the domains of development of a child.",
    "synonyms": [
      "Global developmental delay, 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": "global-developmental-delay",
        "name": "Global developmental delay",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "aimp2",
        "symbol": "AIMP2",
        "hgnc": "HGNC:20609",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aimp2"
      },
      {
        "slug": "arv1",
        "symbol": "ARV1",
        "hgnc": "HGNC:29561",
        "name": "ARV1 fatty acid homeostasis modulator",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arv1"
      },
      {
        "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": "cacna2d2",
        "symbol": "CACNA2D2",
        "hgnc": "HGNC:1400",
        "name": "calcium voltage-gated channel auxiliary subunit alpha2delta 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna2d2"
      },
      {
        "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": "col4a2",
        "symbol": "COL4A2",
        "hgnc": "HGNC:2203",
        "name": "collagen type IV alpha 2 chain",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col4a2"
      },
      {
        "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": "dnm1l",
        "symbol": "DNM1L",
        "hgnc": "HGNC:2973",
        "name": "dynamin 1L",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnm1l"
      },
      {
        "slug": "elovl4",
        "symbol": "ELOVL4",
        "hgnc": "HGNC:14415",
        "name": "ELOVL fatty acid elongase 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/elovl4"
      },
      {
        "slug": "eml1",
        "symbol": "EML1",
        "hgnc": "HGNC:3330",
        "name": "EMAP like 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eml1"
      },
      {
        "slug": "epg5",
        "symbol": "EPG5",
        "hgnc": "HGNC:29331",
        "name": "ectopic P-granules 5 autophagy tethering factor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/epg5"
      },
      {
        "slug": "fars2",
        "symbol": "FARS2",
        "hgnc": "HGNC:21062",
        "name": "phenylalanyl-tRNA synthetase 2, mitochondrial",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fars2"
      },
      {
        "slug": "fdft1",
        "symbol": "FDFT1",
        "hgnc": "HGNC:3629",
        "name": "farnesyl-diphosphate farnesyltransferase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fdft1"
      },
      {
        "slug": "flvcr1",
        "symbol": "FLVCR1",
        "hgnc": "HGNC:24682",
        "name": "FLVCR choline and heme transporter 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flvcr1"
      },
      {
        "slug": "glul",
        "symbol": "GLUL",
        "hgnc": "HGNC:4341",
        "name": "glutamate-ammonia ligase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/glul"
      },
      {
        "slug": "gosr2",
        "symbol": "GOSR2",
        "hgnc": "HGNC:4431",
        "name": "golgi SNAP receptor complex member 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gosr2"
      },
      {
        "slug": "grin1",
        "symbol": "GRIN1",
        "hgnc": "HGNC:4584",
        "name": "glutamate ionotropic receptor NMDA type subunit 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/grin1"
      },
      {
        "slug": "guf1",
        "symbol": "GUF1",
        "hgnc": "HGNC:25799",
        "name": "GTP binding elongation factor GUF1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/guf1"
      },
      {
        "slug": "ireb2",
        "symbol": "IREB2",
        "hgnc": "HGNC:6115",
        "name": "iron responsive element binding protein 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ireb2"
      },
      {
        "slug": "jkamp",
        "symbol": "JKAMP",
        "hgnc": "HGNC:20184",
        "name": "JNK1/MAPK8 associated membrane protein",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jkamp"
      },
      {
        "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": "lipt2",
        "symbol": "LIPT2",
        "hgnc": "HGNC:37216",
        "name": "lipoyl(octanoyl) transferase 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lipt2"
      },
      {
        "slug": "necap1",
        "symbol": "NECAP1",
        "hgnc": "HGNC:24539",
        "name": "NECAP endocytosis associated 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/necap1"
      },
      {
        "slug": "neurog1",
        "symbol": "NEUROG1",
        "hgnc": "HGNC:7764",
        "name": "neurogenin 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/neurog1"
      },
      {
        "slug": "opa1",
        "symbol": "OPA1",
        "hgnc": "HGNC:8140",
        "name": "OPA1 mitochondrial dynamin like GTPase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/opa1"
      },
      {
        "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": "pigw",
        "symbol": "PIGW",
        "hgnc": "HGNC:23213",
        "name": "phosphatidylinositol glycan anchor biosynthesis class W",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigw"
      },
      {
        "slug": "prune1",
        "symbol": "PRUNE1",
        "hgnc": "HGNC:13420",
        "name": "prune exopolyphosphatase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prune1"
      },
      {
        "slug": "ptpn23",
        "symbol": "PTPN23",
        "hgnc": "HGNC:14406",
        "name": "protein tyrosine phosphatase non-receptor type 23",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptpn23"
      },
      {
        "slug": "qars1",
        "symbol": "QARS1",
        "hgnc": "HGNC:9751",
        "name": "glutaminyl-tRNA synthetase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/qars1"
      },
      {
        "slug": "rars2",
        "symbol": "RARS2",
        "hgnc": "HGNC:21406",
        "name": "arginyl-tRNA synthetase 2, mitochondrial",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rars2"
      },
      {
        "slug": "slc12a2",
        "symbol": "SLC12A2",
        "hgnc": "HGNC:10911",
        "name": "solute carrier family 12 member 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc12a2"
      },
      {
        "slug": "slc9a6",
        "symbol": "SLC9A6",
        "hgnc": "HGNC:11079",
        "name": "solute carrier family 9 member A6",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc9a6"
      },
      {
        "slug": "szt2",
        "symbol": "SZT2",
        "hgnc": "HGNC:29040",
        "name": "SZT2 subunit of KICSTOR complex",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/szt2"
      },
      {
        "slug": "tbck",
        "symbol": "TBCK",
        "hgnc": "HGNC:28261",
        "name": "TBC1 domain containing kinase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbck"
      },
      {
        "slug": "tmem63b",
        "symbol": "TMEM63B",
        "hgnc": "HGNC:17735",
        "name": "transmembrane protein 63B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem63b"
      },
      {
        "slug": "tra2b",
        "symbol": "TRA2B",
        "hgnc": "HGNC:10781",
        "name": "transformer 2 beta homolog",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tra2b"
      },
      {
        "slug": "unc80",
        "symbol": "UNC80",
        "hgnc": "HGNC:26582",
        "name": "unc-80 subunit of NALCN channel complex",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/unc80"
      },
      {
        "slug": "washc4",
        "symbol": "WASHC4",
        "hgnc": "HGNC:29174",
        "name": "WASH complex subunit 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/washc4"
      },
      {
        "slug": "wdr4",
        "symbol": "WDR4",
        "hgnc": "HGNC:12756",
        "name": "WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr4"
      },
      {
        "slug": "znf526",
        "symbol": "ZNF526",
        "hgnc": "HGNC:29415",
        "name": "zinc finger protein 526",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf526"
      },
      {
        "slug": "atrx",
        "symbol": "ATRX",
        "hgnc": "HGNC:886",
        "name": "ATRX chromatin remodeler",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atrx"
      },
      {
        "slug": "pex1",
        "symbol": "PEX1",
        "hgnc": "HGNC:8850",
        "name": "peroxisomal biogenesis factor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex1"
      },
      {
        "slug": "pex10",
        "symbol": "PEX10",
        "hgnc": "HGNC:8851",
        "name": "peroxisomal biogenesis factor 10",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex10"
      },
      {
        "slug": "pex11b",
        "symbol": "PEX11B",
        "hgnc": "HGNC:8853",
        "name": "peroxisomal biogenesis factor 11 beta",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex11b"
      },
      {
        "slug": "pex12",
        "symbol": "PEX12",
        "hgnc": "HGNC:8854",
        "name": "peroxisomal biogenesis factor 12",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex12"
      },
      {
        "slug": "pex13",
        "symbol": "PEX13",
        "hgnc": "HGNC:8855",
        "name": "peroxisomal biogenesis factor 13",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex13"
      },
      {
        "slug": "pex14",
        "symbol": "PEX14",
        "hgnc": "HGNC:8856",
        "name": "peroxisomal biogenesis factor 14",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex14"
      },
      {
        "slug": "pex16",
        "symbol": "PEX16",
        "hgnc": "HGNC:8857",
        "name": "peroxisomal biogenesis factor 16",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex16"
      },
      {
        "slug": "pex19",
        "symbol": "PEX19",
        "hgnc": "HGNC:9713",
        "name": "peroxisomal biogenesis factor 19",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex19"
      },
      {
        "slug": "pex2",
        "symbol": "PEX2",
        "hgnc": "HGNC:9717",
        "name": "peroxisomal biogenesis factor 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex2"
      },
      {
        "slug": "pex26",
        "symbol": "PEX26",
        "hgnc": "HGNC:22965",
        "name": "peroxisomal biogenesis factor 26",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex26"
      },
      {
        "slug": "pex3",
        "symbol": "PEX3",
        "hgnc": "HGNC:8858",
        "name": "peroxisomal biogenesis factor 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex3"
      },
      {
        "slug": "pex5",
        "symbol": "PEX5",
        "hgnc": "HGNC:9719",
        "name": "peroxisomal biogenesis factor 5",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex5"
      },
      {
        "slug": "pex6",
        "symbol": "PEX6",
        "hgnc": "HGNC:8859",
        "name": "peroxisomal biogenesis factor 6",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex6"
      },
      {
        "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": "psat1",
        "symbol": "PSAT1",
        "hgnc": "HGNC:19129",
        "name": "phosphoserine aminotransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/psat1"
      },
      {
        "slug": "setbp1",
        "symbol": "SETBP1",
        "hgnc": "HGNC:15573",
        "name": "SET binding protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/setbp1"
      },
      {
        "slug": "slc39a8",
        "symbol": "SLC39A8",
        "hgnc": "HGNC:20862",
        "name": "solute carrier family 39 member 8",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc39a8"
      },
      {
        "slug": "adk",
        "symbol": "ADK",
        "hgnc": "HGNC:257",
        "name": "adenosine kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adk"
      },
      {
        "slug": "dst",
        "symbol": "DST",
        "hgnc": "HGNC:1090",
        "name": "dystonin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dst"
      },
      {
        "slug": "grin2a",
        "symbol": "GRIN2A",
        "hgnc": "HGNC:4585",
        "name": "glutamate ionotropic receptor NMDA type subunit 2A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grin2a"
      },
      {
        "slug": "gtpbp1",
        "symbol": "GTPBP1",
        "hgnc": "HGNC:4669",
        "name": "GTP binding protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtpbp1"
      },
      {
        "slug": "gtpbp2",
        "symbol": "GTPBP2",
        "hgnc": "HGNC:4670",
        "name": "GTP binding protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtpbp2"
      },
      {
        "slug": "h4c3",
        "symbol": "H4C3",
        "hgnc": "HGNC:4787",
        "name": "H4 clustered histone 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/h4c3"
      },
      {
        "slug": "isca2",
        "symbol": "ISCA2",
        "hgnc": "HGNC:19857",
        "name": "iron-sulfur cluster assembly 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/isca2"
      },
      {
        "slug": "katnb1",
        "symbol": "KATNB1",
        "hgnc": "HGNC:6217",
        "name": "katanin regulatory subunit B1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/katnb1"
      },
      {
        "slug": "kcnq2",
        "symbol": "KCNQ2",
        "hgnc": "HGNC:6296",
        "name": "potassium voltage-gated channel subfamily Q member 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnq2"
      },
      {
        "slug": "kcnt1",
        "symbol": "KCNT1",
        "hgnc": "HGNC:18865",
        "name": "potassium sodium-activated channel subfamily T member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnt1"
      },
      {
        "slug": "mff",
        "symbol": "MFF",
        "hgnc": "HGNC:24858",
        "name": "mitochondrial fission factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mff"
      },
      {
        "slug": "nde1",
        "symbol": "NDE1",
        "hgnc": "HGNC:17619",
        "name": "nudE neurodevelopment protein 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nde1"
      },
      {
        "slug": "prps1",
        "symbol": "PRPS1",
        "hgnc": "HGNC:9462",
        "name": "phosphoribosyl pyrophosphate synthetase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prps1"
      },
      {
        "slug": "reln",
        "symbol": "RELN",
        "hgnc": "HGNC:9957",
        "name": "reelin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/reln"
      },
      {
        "slug": "stra6",
        "symbol": "STRA6",
        "hgnc": "HGNC:30650",
        "name": "signaling receptor and transporter of retinol STRA6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stra6"
      },
      {
        "slug": "fgf13",
        "symbol": "FGF13",
        "hgnc": "HGNC:3670",
        "name": "fibroblast growth factor 13",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgf13"
      },
      {
        "slug": "glyctk",
        "symbol": "GLYCTK",
        "hgnc": "HGNC:24247",
        "name": "glycerate kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/glyctk"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "hgnc": "HGNC:18060",
        "name": "aristaless related homeobox",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arx"
      },
      {
        "slug": "asns",
        "symbol": "ASNS",
        "hgnc": "HGNC:753",
        "name": "asparagine synthetase (glutamine-hydrolyzing)",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/asns"
      },
      {
        "slug": "cog7",
        "symbol": "COG7",
        "hgnc": "HGNC:18622",
        "name": "component of oligomeric golgi complex 7",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cog7"
      },
      {
        "slug": "cript",
        "symbol": "CRIPT",
        "hgnc": "HGNC:14312",
        "name": "CXXC repeat containing interactor of PDZ3 domain",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cript"
      },
      {
        "slug": "dennd5a",
        "symbol": "DENND5A",
        "hgnc": "HGNC:19344",
        "name": "DENN domain containing 5A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dennd5a"
      },
      {
        "slug": "pars2",
        "symbol": "PARS2",
        "hgnc": "HGNC:30563",
        "name": "prolyl-tRNA synthetase 2, mitochondrial",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pars2"
      },
      {
        "slug": "plekhg2",
        "symbol": "PLEKHG2",
        "hgnc": "HGNC:29515",
        "name": "pleckstrin homology and RhoGEF domain containing G2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plekhg2"
      }
    ]
  }
}