{
  "url": "https://dantelabs.com/traits/abnormal-brainstem-morphology",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "abnormal-brainstem-morphology",
    "id": "HP:0002363",
    "name": "Abnormal shape of brainstem",
    "label": "Abnormal brainstem morphology",
    "definition": "An anomaly of the brainstem.",
    "synonyms": [
      "Abnormality of brainstem morphology",
      "Abnormality of the brainstem"
    ],
    "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-brain-morphology",
        "name": "Abnormal shape of brain",
        "url": "https://dantelabs.com/traits/abnormal-brain-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "atrophy-degeneration-affecting-the-brainstem",
        "name": "Atrophy/Degeneration affecting the brainstem",
        "genes": 38,
        "url": "https://dantelabs.com/traits/atrophy-degeneration-affecting-the-brainstem"
      },
      {
        "slug": "brain-stem-compression",
        "name": "Brain stem compression",
        "genes": 14,
        "url": "https://dantelabs.com/traits/brain-stem-compression"
      },
      {
        "slug": "abnormal-pons-morphology",
        "name": "Abnormal pons morphology",
        "genes": 10,
        "url": "https://dantelabs.com/traits/abnormal-pons-morphology"
      },
      {
        "slug": "abnormal-brainstem-mri-signal-intensity",
        "name": "Abnormal brainstem MRI signal intensity",
        "genes": 9,
        "url": "https://dantelabs.com/traits/abnormal-brainstem-mri-signal-intensity"
      },
      {
        "slug": "kinked-brainstem",
        "name": "Kinked brainstem",
        "genes": 6,
        "url": "https://dantelabs.com/traits/kinked-brainstem"
      },
      {
        "slug": "brainstem-dysplasia",
        "name": "Brainstem dysplasia",
        "genes": 4,
        "url": "https://dantelabs.com/traits/brainstem-dysplasia"
      },
      {
        "slug": "abnormal-medulla-oblongata-morphology",
        "name": "Abnormal medulla oblongata morphology",
        "genes": 3,
        "url": "https://dantelabs.com/traits/abnormal-medulla-oblongata-morphology"
      },
      {
        "slug": "abnormal-brainstem-white-matter-morphology",
        "name": "Abnormal brainstem white matter morphology",
        "genes": 1,
        "url": "https://dantelabs.com/traits/abnormal-brainstem-white-matter-morphology"
      },
      {
        "slug": "enlarged-tectum",
        "name": "Enlarged tectum",
        "genes": 1,
        "url": "https://dantelabs.com/traits/enlarged-tectum"
      },
      {
        "slug": "midline-brainstem-cleft",
        "name": "Midline brainstem cleft",
        "genes": 1,
        "url": "https://dantelabs.com/traits/midline-brainstem-cleft"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-brainstem",
        "name": "Absent/small brainstem",
        "genes": 0,
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-brainstem"
      }
    ],
    "genes": [
      {
        "slug": "abcb7",
        "symbol": "ABCB7",
        "hgnc": "HGNC:48",
        "name": "ATP binding cassette subfamily B member 7",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abcb7"
      },
      {
        "slug": "sco2",
        "symbol": "SCO2",
        "hgnc": "HGNC:10604",
        "name": "synthesis of cytochrome C oxidase 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sco2"
      },
      {
        "slug": "naga",
        "symbol": "NAGA",
        "hgnc": "HGNC:7631",
        "name": "alpha-N-acetylgalactosaminidase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/naga"
      },
      {
        "slug": "tuba1a",
        "symbol": "TUBA1A",
        "hgnc": "HGNC:20766",
        "name": "tubulin alpha 1a",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tuba1a"
      },
      {
        "slug": "tubb2b",
        "symbol": "TUBB2B",
        "hgnc": "HGNC:30829",
        "name": "tubulin beta 2B class IIb",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tubb2b"
      },
      {
        "slug": "tubb3",
        "symbol": "TUBB3",
        "hgnc": "HGNC:20772",
        "name": "tubulin beta 3 class III",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tubb3"
      },
      {
        "slug": "angptl6",
        "symbol": "ANGPTL6",
        "hgnc": "HGNC:23140",
        "name": "angiopoietin like 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/angptl6"
      },
      {
        "slug": "cacna1a",
        "symbol": "CACNA1A",
        "hgnc": "HGNC:1388",
        "name": "calcium voltage-gated channel subunit alpha1 A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna1a"
      },
      {
        "slug": "cdon",
        "symbol": "CDON",
        "hgnc": "HGNC:17104",
        "name": "cell adhesion associated, oncogene regulated",
        "frequency": "frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/cdon"
      },
      {
        "slug": "chd2",
        "symbol": "CHD2",
        "hgnc": "HGNC:1917",
        "name": "chromodomain helicase DNA binding protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chd2"
      },
      {
        "slug": "col3a1",
        "symbol": "COL3A1",
        "hgnc": "HGNC:2201",
        "name": "collagen type III alpha 1 chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col3a1"
      },
      {
        "slug": "cripto",
        "symbol": "CRIPTO",
        "hgnc": "HGNC:11701",
        "name": "cripto, EGF-CFC family member",
        "frequency": "frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/cripto"
      },
      {
        "slug": "cux2",
        "symbol": "CUX2",
        "hgnc": "HGNC:19347",
        "name": "cut like homeobox 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cux2"
      },
      {
        "slug": "dag1",
        "symbol": "DAG1",
        "hgnc": "HGNC:2666",
        "name": "dystroglycan 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dag1"
      },
      {
        "slug": "disp1",
        "symbol": "DISP1",
        "hgnc": "HGNC:19711",
        "name": "dispatched RND transporter family member 1",
        "frequency": "frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/disp1"
      },
      {
        "slug": "dll1",
        "symbol": "DLL1",
        "hgnc": "HGNC:2908",
        "name": "delta like canonical Notch ligand 1",
        "frequency": "frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/dll1"
      },
      {
        "slug": "dnm1",
        "symbol": "DNM1",
        "hgnc": "HGNC:2972",
        "name": "dynamin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnm1"
      },
      {
        "slug": "eng",
        "symbol": "ENG",
        "hgnc": "HGNC:3349",
        "name": "endoglin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eng"
      },
      {
        "slug": "fgf8",
        "symbol": "FGF8",
        "hgnc": "HGNC:3686",
        "name": "fibroblast growth factor 8",
        "frequency": "frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/fgf8"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "hgnc": "HGNC:3688",
        "name": "fibroblast growth factor receptor 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fgfr1"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "hgnc": "HGNC:17997",
        "name": "fukutin related protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fkrp"
      },
      {
        "slug": "foxh1",
        "symbol": "FOXH1",
        "hgnc": "HGNC:3814",
        "name": "forkhead box H1",
        "frequency": "frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/foxh1"
      },
      {
        "slug": "gabrb3",
        "symbol": "GABRB3",
        "hgnc": "HGNC:4083",
        "name": "gamma-aminobutyric acid type A receptor subunit beta3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabrb3"
      },
      {
        "slug": "gas1",
        "symbol": "GAS1",
        "hgnc": "HGNC:4165",
        "name": "growth arrest specific 1",
        "frequency": "frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/gas1"
      },
      {
        "slug": "gli2",
        "symbol": "GLI2",
        "hgnc": "HGNC:4318",
        "name": "GLI family zinc finger 2",
        "frequency": "frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/gli2"
      },
      {
        "slug": "gmppb",
        "symbol": "GMPPB",
        "hgnc": "HGNC:22932",
        "name": "GDP-mannose pyrophosphorylase B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gmppb"
      },
      {
        "slug": "lama1",
        "symbol": "LAMA1",
        "hgnc": "HGNC:6481",
        "name": "laminin subunit alpha 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lama1"
      },
      {
        "slug": "mapk10",
        "symbol": "MAPK10",
        "hgnc": "HGNC:6872",
        "name": "mitogen-activated protein kinase 10",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mapk10"
      },
      {
        "slug": "nodal",
        "symbol": "NODAL",
        "hgnc": "HGNC:7865",
        "name": "nodal growth differentiation factor",
        "frequency": "frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/nodal"
      },
      {
        "slug": "plch1",
        "symbol": "PLCH1",
        "hgnc": "HGNC:29185",
        "name": "phospholipase C eta 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plch1"
      },
      {
        "slug": "pomgnt1",
        "symbol": "POMGNT1",
        "hgnc": "HGNC:19139",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomgnt1"
      },
      {
        "slug": "pomk",
        "symbol": "POMK",
        "hgnc": "HGNC:26267",
        "name": "protein O-mannose kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomk"
      },
      {
        "slug": "pomt1",
        "symbol": "POMT1",
        "hgnc": "HGNC:9202",
        "name": "protein O-mannosyltransferase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomt1"
      },
      {
        "slug": "pomt2",
        "symbol": "POMT2",
        "hgnc": "HGNC:19743",
        "name": "protein O-mannosyltransferase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomt2"
      },
      {
        "slug": "ptch1",
        "symbol": "PTCH1",
        "hgnc": "HGNC:9585",
        "name": "patched 1",
        "frequency": "frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/ptch1"
      },
      {
        "slug": "ranbp2",
        "symbol": "RANBP2",
        "hgnc": "HGNC:9848",
        "name": "RAN binding protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ranbp2"
      },
      {
        "slug": "scn1a",
        "symbol": "SCN1A",
        "hgnc": "HGNC:10585",
        "name": "sodium voltage-gated channel alpha subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn1a"
      },
      {
        "slug": "shh",
        "symbol": "SHH",
        "hgnc": "HGNC:10848",
        "name": "sonic hedgehog signaling molecule",
        "frequency": "frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/shh"
      },
      {
        "slug": "six3",
        "symbol": "SIX3",
        "hgnc": "HGNC:10889",
        "name": "SIX homeobox 3",
        "frequency": "frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/six3"
      },
      {
        "slug": "smc1a",
        "symbol": "SMC1A",
        "hgnc": "HGNC:11111",
        "name": "structural maintenance of chromosomes 1A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smc1a"
      },
      {
        "slug": "stag2",
        "symbol": "STAG2",
        "hgnc": "HGNC:11355",
        "name": "STAG2 cohesin complex component",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/stag2"
      },
      {
        "slug": "stil",
        "symbol": "STIL",
        "hgnc": "HGNC:10879",
        "name": "STIL centriolar assembly protein",
        "frequency": "frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/stil"
      },
      {
        "slug": "tgfbr3",
        "symbol": "TGFBR3",
        "hgnc": "HGNC:11774",
        "name": "transforming growth factor beta receptor 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgfbr3"
      },
      {
        "slug": "tgif1",
        "symbol": "TGIF1",
        "hgnc": "HGNC:11776",
        "name": "TGFB induced factor homeobox 1",
        "frequency": "frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/tgif1"
      },
      {
        "slug": "thsd1",
        "symbol": "THSD1",
        "hgnc": "HGNC:17754",
        "name": "thrombospondin type 1 domain containing 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/thsd1"
      },
      {
        "slug": "zic2",
        "symbol": "ZIC2",
        "hgnc": "HGNC:12873",
        "name": "Zic family zinc finger 2",
        "frequency": "frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/zic2"
      },
      {
        "slug": "atxn1",
        "symbol": "ATXN1",
        "hgnc": "HGNC:10548",
        "name": "ataxin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atxn1"
      },
      {
        "slug": "cilk1",
        "symbol": "CILK1",
        "hgnc": "HGNC:21219",
        "name": "ciliogenesis associated kinase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cilk1"
      },
      {
        "slug": "clp1",
        "symbol": "CLP1",
        "hgnc": "HGNC:16999",
        "name": "cleavage factor polyribonucleotide kinase subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/clp1"
      },
      {
        "slug": "dyrk1a",
        "symbol": "DYRK1A",
        "hgnc": "HGNC:3091",
        "name": "dual specificity tyrosine phosphorylation regulated kinase 1A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dyrk1a"
      },
      {
        "slug": "fmr1",
        "symbol": "FMR1",
        "hgnc": "HGNC:3775",
        "name": "fragile X messenger ribonucleoprotein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fmr1"
      },
      {
        "slug": "pdhx",
        "symbol": "PDHX",
        "hgnc": "HGNC:21350",
        "name": "pyruvate dehydrogenase complex component X",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdhx"
      }
    ]
  }
}