{
  "url": "https://dantelabs.com/traits/bilateral-ptosis",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "bilateral-ptosis",
    "id": "HP:0001488",
    "name": "Drooping of both upper eyelids",
    "label": "Bilateral ptosis",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "url": "https://dantelabs.com/traits/ptosis"
      }
    ],
    "narrower": [
      {
        "slug": "congenital-bilateral-ptosis",
        "name": "Congenital drooping of both upper eyelids",
        "genes": 1,
        "url": "https://dantelabs.com/traits/congenital-bilateral-ptosis"
      }
    ],
    "genes": [
      {
        "slug": "acbd5",
        "symbol": "ACBD5",
        "hgnc": "HGNC:23338",
        "name": "acyl-CoA binding domain containing 5",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acbd5"
      },
      {
        "slug": "dnm1l",
        "symbol": "DNM1L",
        "hgnc": "HGNC:2973",
        "name": "dynamin 1L",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dnm1l"
      },
      {
        "slug": "dst",
        "symbol": "DST",
        "hgnc": "HGNC:1090",
        "name": "dystonin",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dst"
      },
      {
        "slug": "guk1",
        "symbol": "GUK1",
        "hgnc": "HGNC:4693",
        "name": "guanylate kinase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/guk1"
      },
      {
        "slug": "idua",
        "symbol": "IDUA",
        "hgnc": "HGNC:5391",
        "name": "alpha-L-iduronidase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/idua"
      },
      {
        "slug": "iscu",
        "symbol": "ISCU",
        "hgnc": "HGNC:29882",
        "name": "iron-sulfur cluster assembly enzyme",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/iscu"
      },
      {
        "slug": "jph1",
        "symbol": "JPH1",
        "hgnc": "HGNC:14201",
        "name": "junctophilin 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jph1"
      },
      {
        "slug": "kdm6a",
        "symbol": "KDM6A",
        "hgnc": "HGNC:12637",
        "name": "lysine demethylase 6A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm6a"
      },
      {
        "slug": "kmt2d",
        "symbol": "KMT2D",
        "hgnc": "HGNC:7133",
        "name": "lysine methyltransferase 2D",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kmt2d"
      },
      {
        "slug": "lrp12",
        "symbol": "LRP12",
        "hgnc": "HGNC:31708",
        "name": "LDL receptor related protein 12",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrp12"
      },
      {
        "slug": "nhej1",
        "symbol": "NHEJ1",
        "hgnc": "HGNC:25737",
        "name": "non-homologous end joining factor 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nhej1"
      },
      {
        "slug": "nras",
        "symbol": "NRAS",
        "hgnc": "HGNC:7989",
        "name": "NRAS proto-oncogene, GTPase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nras"
      },
      {
        "slug": "pax6",
        "symbol": "PAX6",
        "hgnc": "HGNC:8620",
        "name": "paired box 6",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pax6"
      },
      {
        "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": "polg",
        "symbol": "POLG",
        "hgnc": "HGNC:9179",
        "name": "DNA polymerase gamma, catalytic subunit",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polg"
      },
      {
        "slug": "ryr1",
        "symbol": "RYR1",
        "hgnc": "HGNC:10483",
        "name": "ryanodine receptor 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ryr1"
      },
      {
        "slug": "scn4a",
        "symbol": "SCN4A",
        "hgnc": "HGNC:10591",
        "name": "sodium voltage-gated channel alpha subunit 4",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/scn4a"
      },
      {
        "slug": "sos1",
        "symbol": "SOS1",
        "hgnc": "HGNC:11187",
        "name": "SOS Ras/Rac guanine nucleotide exchange factor 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sos1"
      },
      {
        "slug": "twist1",
        "symbol": "TWIST1",
        "hgnc": "HGNC:12428",
        "name": "twist family bHLH transcription factor 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/twist1"
      },
      {
        "slug": "wt1",
        "symbol": "WT1",
        "hgnc": "HGNC:12796",
        "name": "WT1 transcription factor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wt1"
      },
      {
        "slug": "znf407",
        "symbol": "ZNF407",
        "hgnc": "HGNC:19904",
        "name": "zinc finger protein 407",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf407"
      },
      {
        "slug": "dbh",
        "symbol": "DBH",
        "hgnc": "HGNC:2689",
        "name": "dopamine beta-hydroxylase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dbh"
      },
      {
        "slug": "gsn",
        "symbol": "GSN",
        "hgnc": "HGNC:4620",
        "name": "gelsolin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gsn"
      },
      {
        "slug": "abcc8",
        "symbol": "ABCC8",
        "hgnc": "HGNC:59",
        "name": "ATP binding cassette subfamily C member 8",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/abcc8"
      },
      {
        "slug": "aebp1",
        "symbol": "AEBP1",
        "hgnc": "HGNC:303",
        "name": "AE binding protein 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/aebp1"
      },
      {
        "slug": "atxn7l3",
        "symbol": "ATXN7L3",
        "hgnc": "HGNC:25416",
        "name": "ataxin 7 like 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atxn7l3"
      },
      {
        "slug": "auts2",
        "symbol": "AUTS2",
        "hgnc": "HGNC:14262",
        "name": "activator of transcription and developmental regulator AUTS2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/auts2"
      },
      {
        "slug": "cert1",
        "symbol": "CERT1",
        "hgnc": "HGNC:2205",
        "name": "ceramide transporter 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cert1"
      },
      {
        "slug": "chrng",
        "symbol": "CHRNG",
        "hgnc": "HGNC:1967",
        "name": "cholinergic receptor nicotinic gamma subunit",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chrng"
      },
      {
        "slug": "col13a1",
        "symbol": "COL13A1",
        "hgnc": "HGNC:2190",
        "name": "collagen type XIII alpha 1 chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col13a1"
      },
      {
        "slug": "colq",
        "symbol": "COLQ",
        "hgnc": "HGNC:2226",
        "name": "collagen like tail subunit of asymmetric acetylcholinesterase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/colq"
      },
      {
        "slug": "dguok",
        "symbol": "DGUOK",
        "hgnc": "HGNC:2858",
        "name": "deoxyguanosine kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dguok"
      },
      {
        "slug": "gck",
        "symbol": "GCK",
        "hgnc": "HGNC:4195",
        "name": "glucokinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gck"
      },
      {
        "slug": "ins",
        "symbol": "INS",
        "hgnc": "HGNC:6081",
        "name": "insulin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ins"
      },
      {
        "slug": "kcnh1",
        "symbol": "KCNH1",
        "hgnc": "HGNC:6250",
        "name": "potassium voltage-gated channel subfamily H member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnh1"
      },
      {
        "slug": "kcnj11",
        "symbol": "KCNJ11",
        "hgnc": "HGNC:6257",
        "name": "potassium inwardly rectifying channel subfamily J member 11",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/kcnj11"
      },
      {
        "slug": "lamb2",
        "symbol": "LAMB2",
        "hgnc": "HGNC:6487",
        "name": "laminin subunit beta 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lamb2"
      },
      {
        "slug": "maf",
        "symbol": "MAF",
        "hgnc": "HGNC:6776",
        "name": "MAF bZIP transcription factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/maf"
      },
      {
        "slug": "odc1",
        "symbol": "ODC1",
        "hgnc": "HGNC:8109",
        "name": "ornithine decarboxylase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/odc1"
      },
      {
        "slug": "opa1",
        "symbol": "OPA1",
        "hgnc": "HGNC:8140",
        "name": "OPA1 mitochondrial dynamin like GTPase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/opa1"
      },
      {
        "slug": "pacs1",
        "symbol": "PACS1",
        "hgnc": "HGNC:30032",
        "name": "phosphofurin acidic cluster sorting protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pacs1"
      },
      {
        "slug": "pdx1",
        "symbol": "PDX1",
        "hgnc": "HGNC:6107",
        "name": "pancreatic and duodenal homeobox 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdx1"
      },
      {
        "slug": "rad21",
        "symbol": "RAD21",
        "hgnc": "HGNC:9811",
        "name": "RAD21 cohesin complex component",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rad21"
      },
      {
        "slug": "rnaseh1",
        "symbol": "RNASEH1",
        "hgnc": "HGNC:18466",
        "name": "ribonuclease H1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rnaseh1"
      },
      {
        "slug": "rrm2b",
        "symbol": "RRM2B",
        "hgnc": "HGNC:17296",
        "name": "ribonucleotide reductase regulatory TP53 inducible subunit M2B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rrm2b"
      },
      {
        "slug": "specc1l",
        "symbol": "SPECC1L",
        "hgnc": "HGNC:29022",
        "name": "sperm antigen with calponin homology and coiled-coil domains 1 like",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/specc1l"
      },
      {
        "slug": "stac3",
        "symbol": "STAC3",
        "hgnc": "HGNC:28423",
        "name": "SH3 and cysteine rich domain 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stac3"
      },
      {
        "slug": "stat3",
        "symbol": "STAT3",
        "hgnc": "HGNC:11364",
        "name": "signal transducer and activator of transcription 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stat3"
      },
      {
        "slug": "tubb3",
        "symbol": "TUBB3",
        "hgnc": "HGNC:20772",
        "name": "tubulin beta 3 class III",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tubb3"
      },
      {
        "slug": "adnp",
        "symbol": "ADNP",
        "hgnc": "HGNC:15766",
        "name": "activity dependent neuroprotector homeobox",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/adnp"
      },
      {
        "slug": "atp6v1b2",
        "symbol": "ATP6V1B2",
        "hgnc": "HGNC:854",
        "name": "ATPase H+ transporting V1 subunit B2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v1b2"
      },
      {
        "slug": "cdc42bpb",
        "symbol": "CDC42BPB",
        "hgnc": "HGNC:1738",
        "name": "CDC42 binding protein kinase beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdc42bpb"
      },
      {
        "slug": "clcn3",
        "symbol": "CLCN3",
        "hgnc": "HGNC:2021",
        "name": "Cl-/H+ antiporter 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/clcn3"
      },
      {
        "slug": "col2a1",
        "symbol": "COL2A1",
        "hgnc": "HGNC:2200",
        "name": "collagen type II alpha 1 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col2a1"
      },
      {
        "slug": "creld1",
        "symbol": "CRELD1",
        "hgnc": "HGNC:14630",
        "name": "CRELD disulfide isomerase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/creld1"
      },
      {
        "slug": "kdm1a",
        "symbol": "KDM1A",
        "hgnc": "HGNC:29079",
        "name": "lysine demethylase 1A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm1a"
      },
      {
        "slug": "lrrc7",
        "symbol": "LRRC7",
        "hgnc": "HGNC:18531",
        "name": "leucine rich repeat containing 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrrc7"
      },
      {
        "slug": "naa10",
        "symbol": "NAA10",
        "hgnc": "HGNC:18704",
        "name": "N-alpha-acetyltransferase 10, NatA catalytic subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/naa10"
      },
      {
        "slug": "nars2",
        "symbol": "NARS2",
        "hgnc": "HGNC:26274",
        "name": "asparaginyl-tRNA synthetase 2, mitochondrial",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nars2"
      },
      {
        "slug": "notch3",
        "symbol": "NOTCH3",
        "hgnc": "HGNC:7883",
        "name": "notch receptor 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch3"
      },
      {
        "slug": "nova2",
        "symbol": "NOVA2",
        "hgnc": "HGNC:7887",
        "name": "NOVA alternative splicing regulator 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nova2"
      },
      {
        "slug": "pdzd8",
        "symbol": "PDZD8",
        "hgnc": "HGNC:26974",
        "name": "PDZ domain containing 8",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdzd8"
      },
      {
        "slug": "plec",
        "symbol": "PLEC",
        "hgnc": "HGNC:9069",
        "name": "plectin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plec"
      },
      {
        "slug": "polrmt",
        "symbol": "POLRMT",
        "hgnc": "HGNC:9200",
        "name": "RNA polymerase mitochondrial",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polrmt"
      },
      {
        "slug": "tbc1d24",
        "symbol": "TBC1D24",
        "hgnc": "HGNC:29203",
        "name": "TBC1 domain family member 24",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbc1d24"
      },
      {
        "slug": "tuba1a",
        "symbol": "TUBA1A",
        "hgnc": "HGNC:20766",
        "name": "tubulin alpha 1a",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tuba1a"
      },
      {
        "slug": "tubb2b",
        "symbol": "TUBB2B",
        "hgnc": "HGNC:30829",
        "name": "tubulin beta 2B class IIb",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tubb2b"
      },
      {
        "slug": "tyms",
        "symbol": "TYMS",
        "hgnc": "HGNC:12441",
        "name": "thymidylate synthetase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tyms"
      },
      {
        "slug": "flna",
        "symbol": "FLNA",
        "hgnc": "HGNC:3754",
        "name": "filamin A",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flna"
      },
      {
        "slug": "ngly1",
        "symbol": "NGLY1",
        "hgnc": "HGNC:17646",
        "name": "N-glycanase 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ngly1"
      },
      {
        "slug": "pah",
        "symbol": "PAH",
        "hgnc": "HGNC:8582",
        "name": "phenylalanine hydroxylase",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pah"
      },
      {
        "slug": "ppp2r5c",
        "symbol": "PPP2R5C",
        "hgnc": "HGNC:9311",
        "name": "protein phosphatase 2 regulatory subunit B'gamma",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppp2r5c"
      },
      {
        "slug": "kif21a",
        "symbol": "KIF21A",
        "hgnc": "HGNC:19349",
        "name": "kinesin family member 21A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif21a"
      },
      {
        "slug": "phox2a",
        "symbol": "PHOX2A",
        "hgnc": "HGNC:691",
        "name": "paired like homeobox 2A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phox2a"
      }
    ]
  }
}