{
  "url": "https://dantelabs.com/traits/brainstem-dysplasia",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "brainstem-dysplasia",
    "id": "HP:0002508",
    "name": "Brainstem dysplasia",
    "definition": "A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.",
    "synonyms": [
      "Brainstem hypoplasia/dysplasia",
      "Malformation of brainstem structures"
    ],
    "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": "abnormal-brainstem-morphology",
        "name": "Abnormal shape of brainstem",
        "url": "https://dantelabs.com/traits/abnormal-brainstem-morphology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "snapin",
        "symbol": "SNAPIN",
        "hgnc": "HGNC:17145",
        "name": "SNAP associated protein",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/snapin"
      },
      {
        "slug": "inpp5e",
        "symbol": "INPP5E",
        "hgnc": "HGNC:21474",
        "name": "inositol polyphosphate-5-phosphatase E",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/inpp5e"
      },
      {
        "slug": "rpgrip1l",
        "symbol": "RPGRIP1L",
        "hgnc": "HGNC:29168",
        "name": "RPGRIP1 like",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpgrip1l"
      },
      {
        "slug": "tmem216",
        "symbol": "TMEM216",
        "hgnc": "HGNC:25018",
        "name": "transmembrane protein 216",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem216"
      }
    ]
  }
}