{
  "url": "https://dantelabs.com/traits/bilateral-microphthalmos",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "bilateral-microphthalmos",
    "id": "HP:0007633",
    "name": "Abnormally small eyeball on both sides",
    "label": "Bilateral microphthalmos",
    "definition": "A developmental anomaly characterized by abnormal smallness of both eyes.",
    "synonyms": [
      "Decreased size of both eyeballs",
      "Microphthalmia, bilateral"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "url": "https://dantelabs.com/traits/microphthalmia"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "ercc1",
        "symbol": "ERCC1",
        "hgnc": "HGNC:3433",
        "name": "ERCC excision repair 1, endonuclease non-catalytic subunit",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc1"
      },
      {
        "slug": "gdf3",
        "symbol": "GDF3",
        "hgnc": "HGNC:4218",
        "name": "growth differentiation factor 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gdf3"
      },
      {
        "slug": "gdf6",
        "symbol": "GDF6",
        "hgnc": "HGNC:4221",
        "name": "growth differentiation factor 6",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gdf6"
      },
      {
        "slug": "fam111a",
        "symbol": "FAM111A",
        "hgnc": "HGNC:24725",
        "name": "FAM111 trypsin like peptidase A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fam111a"
      },
      {
        "slug": "fig4",
        "symbol": "FIG4",
        "hgnc": "HGNC:16873",
        "name": "FIG4 phosphoinositide 5-phosphatase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fig4"
      },
      {
        "slug": "vac14",
        "symbol": "VAC14",
        "hgnc": "HGNC:25507",
        "name": "VAC14 component of PIKFYVE complex",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vac14"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "hgnc": "HGNC:20",
        "name": "alanyl-tRNA synthetase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aars1"
      },
      {
        "slug": "capn15",
        "symbol": "CAPN15",
        "hgnc": "HGNC:11182",
        "name": "calpain 15",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/capn15"
      },
      {
        "slug": "cars1",
        "symbol": "CARS1",
        "hgnc": "HGNC:1493",
        "name": "cysteinyl-tRNA synthetase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cars1"
      },
      {
        "slug": "dbr1",
        "symbol": "DBR1",
        "hgnc": "HGNC:15594",
        "name": "debranching RNA lariats 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dbr1"
      },
      {
        "slug": "ercc2",
        "symbol": "ERCC2",
        "hgnc": "HGNC:3434",
        "name": "ERCC excision repair 2, TFIIH core complex helicase subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc2"
      },
      {
        "slug": "ercc3",
        "symbol": "ERCC3",
        "hgnc": "HGNC:3435",
        "name": "ERCC excision repair 3, TFIIH core complex helicase subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc3"
      },
      {
        "slug": "gtf2e2",
        "symbol": "GTF2E2",
        "hgnc": "HGNC:4651",
        "name": "general transcription factor IIE subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2e2"
      },
      {
        "slug": "gtf2h5",
        "symbol": "GTF2H5",
        "hgnc": "HGNC:21157",
        "name": "general transcription factor IIH subunit 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2h5"
      },
      {
        "slug": "mau2",
        "symbol": "MAU2",
        "hgnc": "HGNC:29140",
        "name": "MAU2 sister chromatid cohesion factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mau2"
      },
      {
        "slug": "med13l",
        "symbol": "MED13L",
        "hgnc": "HGNC:22962",
        "name": "mediator complex subunit 13L",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/med13l"
      },
      {
        "slug": "mplkip",
        "symbol": "MPLKIP",
        "hgnc": "HGNC:16002",
        "name": "M-phase specific PLK1 interacting protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mplkip"
      },
      {
        "slug": "pax6",
        "symbol": "PAX6",
        "hgnc": "HGNC:8620",
        "name": "paired box 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pax6"
      },
      {
        "slug": "puf60",
        "symbol": "PUF60",
        "hgnc": "HGNC:17042",
        "name": "poly(U) binding splicing factor 60",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/puf60"
      },
      {
        "slug": "rnf113a",
        "symbol": "RNF113A",
        "hgnc": "HGNC:12974",
        "name": "ring finger protein 113A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnf113a"
      },
      {
        "slug": "rttn",
        "symbol": "RTTN",
        "hgnc": "HGNC:18654",
        "name": "rotatin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rttn"
      },
      {
        "slug": "tars1",
        "symbol": "TARS1",
        "hgnc": "HGNC:11572",
        "name": "threonyl-tRNA synthetase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tars1"
      },
      {
        "slug": "ptbp1",
        "symbol": "PTBP1",
        "hgnc": "HGNC:9583",
        "name": "polypyrimidine tract binding protein 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptbp1"
      },
      {
        "slug": "fras1",
        "symbol": "FRAS1",
        "hgnc": "HGNC:19185",
        "name": "Fraser extracellular matrix complex subunit 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fras1"
      },
      {
        "slug": "myrf",
        "symbol": "MYRF",
        "hgnc": "HGNC:1181",
        "name": "myelin regulatory factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myrf"
      },
      {
        "slug": "ptch1",
        "symbol": "PTCH1",
        "hgnc": "HGNC:9585",
        "name": "patched 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptch1"
      },
      {
        "slug": "shh",
        "symbol": "SHH",
        "hgnc": "HGNC:10848",
        "name": "sonic hedgehog signaling molecule",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/shh"
      },
      {
        "slug": "stra6",
        "symbol": "STRA6",
        "hgnc": "HGNC:30650",
        "name": "signaling receptor and transporter of retinol STRA6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stra6"
      },
      {
        "slug": "tcof1",
        "symbol": "TCOF1",
        "hgnc": "HGNC:11654",
        "name": "treacle ribosome biogenesis factor 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tcof1"
      }
    ]
  }
}