{
  "url": "https://dantelabs.com/traits/pseudobulbar-signs",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "pseudobulbar-signs",
    "id": "HP:0002200",
    "name": "Pseudobulbar signs",
    "definition": "Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.",
    "synonyms": [
      "Pseudobulbar symptoms"
    ],
    "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-nervous-system-physiology",
        "name": "Abnormal nervous system physiology",
        "url": "https://dantelabs.com/traits/abnormal-nervous-system-physiology"
      }
    ],
    "narrower": [
      {
        "slug": "pseudobulbar-paralysis",
        "name": "Pseudobulbar paralysis",
        "genes": 23,
        "url": "https://dantelabs.com/traits/pseudobulbar-paralysis"
      },
      {
        "slug": "pseudobulbar-affect",
        "name": "Pseudobulbar affect",
        "genes": 3,
        "url": "https://dantelabs.com/traits/pseudobulbar-affect"
      }
    ],
    "genes": [
      {
        "slug": "htra1",
        "symbol": "HTRA1",
        "hgnc": "HGNC:9476",
        "name": "HtrA serine peptidase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/htra1"
      },
      {
        "slug": "notch3",
        "symbol": "NOTCH3",
        "hgnc": "HGNC:7883",
        "name": "notch receptor 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch3"
      },
      {
        "slug": "tmem63b",
        "symbol": "TMEM63B",
        "hgnc": "HGNC:17735",
        "name": "transmembrane protein 63B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem63b"
      },
      {
        "slug": "fbln1",
        "symbol": "FBLN1",
        "hgnc": "HGNC:3600",
        "name": "fibulin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbln1"
      },
      {
        "slug": "spg7",
        "symbol": "SPG7",
        "hgnc": "HGNC:11237",
        "name": "SPG7 matrix AAA peptidase subunit, paraplegin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spg7"
      },
      {
        "slug": "dnmt1",
        "symbol": "DNMT1",
        "hgnc": "HGNC:2976",
        "name": "DNA methyltransferase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnmt1"
      },
      {
        "slug": "gm2a",
        "symbol": "GM2A",
        "hgnc": "HGNC:4367",
        "name": "ganglioside GM2 activator",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gm2a"
      },
      {
        "slug": "lmnb1",
        "symbol": "LMNB1",
        "hgnc": "HGNC:6637",
        "name": "lamin B1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmnb1"
      },
      {
        "slug": "adss1",
        "symbol": "ADSS1",
        "hgnc": "HGNC:20093",
        "name": "adenylosuccinate synthase 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adss1"
      },
      {
        "slug": "aspa",
        "symbol": "ASPA",
        "hgnc": "HGNC:756",
        "name": "aspartoacylase",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aspa"
      },
      {
        "slug": "ap4m1",
        "symbol": "AP4M1",
        "hgnc": "HGNC:574",
        "name": "adaptor related protein complex 4 subunit mu 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ap4m1"
      }
    ]
  }
}