{
  "url": "https://dantelabs.com/traits/abnormal-brain-morphology",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "abnormal-brain-morphology",
    "id": "HP:0012443",
    "name": "Abnormal shape of brain",
    "label": "Abnormal brain morphology",
    "definition": "A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.",
    "synonyms": [
      "Abnormality of the brain",
      "Abnormality of brain morphology"
    ],
    "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": "morphological-central-nervous-system-abnormality",
        "name": "Morphological central nervous system abnormality",
        "url": "https://dantelabs.com/traits/morphological-central-nervous-system-abnormality"
      }
    ],
    "narrower": [
      {
        "slug": "brain-atrophy",
        "name": "Brain degeneration",
        "genes": 202,
        "url": "https://dantelabs.com/traits/brain-atrophy"
      },
      {
        "slug": "holoprosencephaly",
        "name": "Holoprosencephaly",
        "genes": 59,
        "url": "https://dantelabs.com/traits/holoprosencephaly"
      },
      {
        "slug": "abnormal-brainstem-morphology",
        "name": "Abnormal shape of brainstem",
        "genes": 52,
        "url": "https://dantelabs.com/traits/abnormal-brainstem-morphology"
      },
      {
        "slug": "abnormal-cerebral-vascular-morphology",
        "name": "Abnormality of the cerebral blood vessels",
        "genes": 51,
        "url": "https://dantelabs.com/traits/abnormal-cerebral-vascular-morphology"
      },
      {
        "slug": "abnormal-midbrain-morphology",
        "name": "Abnormal shape of midbrain",
        "genes": 18,
        "url": "https://dantelabs.com/traits/abnormal-midbrain-morphology"
      },
      {
        "slug": "brain-neoplasm",
        "name": "Brain neoplasm",
        "genes": 14,
        "url": "https://dantelabs.com/traits/brain-neoplasm"
      },
      {
        "slug": "iron-accumulation-in-brain",
        "name": "Iron accumulation in brain",
        "genes": 9,
        "url": "https://dantelabs.com/traits/iron-accumulation-in-brain"
      },
      {
        "slug": "abnormal-pituitary-gland-morphology",
        "name": "Abnormal pituitary gland morphology",
        "genes": 4,
        "url": "https://dantelabs.com/traits/abnormal-pituitary-gland-morphology"
      },
      {
        "slug": "kernicterus",
        "name": "Kernicterus",
        "genes": 2,
        "url": "https://dantelabs.com/traits/kernicterus"
      },
      {
        "slug": "abnormal-cerebral-ventricle-morphology",
        "name": "Abnormal cerebral ventricle morphology",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-cerebral-ventricle-morphology"
      },
      {
        "slug": "abnormal-pineal-morphology",
        "name": "Abnormal pineal morphology",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-pineal-morphology"
      },
      {
        "slug": "abnormal-forebrain-morphology",
        "name": "Abnormal shape of forebrain",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-forebrain-morphology"
      },
      {
        "slug": "abnormal-hindbrain-morphology",
        "name": "Abnormal shape of hindbrain",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-hindbrain-morphology"
      }
    ],
    "genes": [
      {
        "slug": "mbtps2",
        "symbol": "MBTPS2",
        "hgnc": "HGNC:15455",
        "name": "membrane bound transcription factor peptidase, site 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mbtps2"
      },
      {
        "slug": "son",
        "symbol": "SON",
        "hgnc": "HGNC:11183",
        "name": "SON DNA and RNA binding protein",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/son"
      },
      {
        "slug": "tbk1",
        "symbol": "TBK1",
        "hgnc": "HGNC:11584",
        "name": "TANK binding kinase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbk1"
      },
      {
        "slug": "ticam1",
        "symbol": "TICAM1",
        "hgnc": "HGNC:18348",
        "name": "TIR domain containing adaptor molecule 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ticam1"
      },
      {
        "slug": "tlr3",
        "symbol": "TLR3",
        "hgnc": "HGNC:11849",
        "name": "toll like receptor 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tlr3"
      },
      {
        "slug": "traf3",
        "symbol": "TRAF3",
        "hgnc": "HGNC:12033",
        "name": "TNF receptor associated factor 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/traf3"
      },
      {
        "slug": "trappc9",
        "symbol": "TRAPPC9",
        "hgnc": "HGNC:30832",
        "name": "trafficking protein particle complex subunit 9",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trappc9"
      },
      {
        "slug": "unc93b1",
        "symbol": "UNC93B1",
        "hgnc": "HGNC:13481",
        "name": "unc-93B1 regulator of TLR signaling",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/unc93b1"
      },
      {
        "slug": "wac",
        "symbol": "WAC",
        "hgnc": "HGNC:17327",
        "name": "WW domain containing adaptor with coiled-coil",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wac"
      },
      {
        "slug": "adat3",
        "symbol": "ADAT3",
        "hgnc": "HGNC:25151",
        "name": "adenosine deaminase tRNA specific 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adat3"
      },
      {
        "slug": "adnp",
        "symbol": "ADNP",
        "hgnc": "HGNC:15766",
        "name": "activity dependent neuroprotector homeobox",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adnp"
      },
      {
        "slug": "afg2a",
        "symbol": "AFG2A",
        "hgnc": "HGNC:18119",
        "name": "AAA ATPase AFG2A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/afg2a"
      },
      {
        "slug": "ahdc1",
        "symbol": "AHDC1",
        "hgnc": "HGNC:25230",
        "name": "AT-hook DNA binding motif containing 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ahdc1"
      },
      {
        "slug": "cnot1",
        "symbol": "CNOT1",
        "hgnc": "HGNC:7877",
        "name": "CCR4-NOT transcription complex subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cnot1"
      },
      {
        "slug": "cpt2",
        "symbol": "CPT2",
        "hgnc": "HGNC:2330",
        "name": "carnitine palmitoyltransferase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cpt2"
      },
      {
        "slug": "dll1",
        "symbol": "DLL1",
        "hgnc": "HGNC:2908",
        "name": "delta like canonical Notch ligand 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dll1"
      },
      {
        "slug": "fbxw7",
        "symbol": "FBXW7",
        "hgnc": "HGNC:16712",
        "name": "F-box and WD repeat domain containing 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbxw7"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "hgnc": "HGNC:17997",
        "name": "fukutin related protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fkrp"
      },
      {
        "slug": "gmppb",
        "symbol": "GMPPB",
        "hgnc": "HGNC:22932",
        "name": "GDP-mannose pyrophosphorylase B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gmppb"
      },
      {
        "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": "lonp1",
        "symbol": "LONP1",
        "hgnc": "HGNC:9479",
        "name": "lon peptidase 1, mitochondrial",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lonp1"
      },
      {
        "slug": "man1b1",
        "symbol": "MAN1B1",
        "hgnc": "HGNC:6823",
        "name": "mannosidase alpha class 1B member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/man1b1"
      },
      {
        "slug": "mthfr",
        "symbol": "MTHFR",
        "hgnc": "HGNC:7436",
        "name": "methylenetetrahydrofolate reductase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mthfr"
      },
      {
        "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": "pdha1",
        "symbol": "PDHA1",
        "hgnc": "HGNC:8806",
        "name": "pyruvate dehydrogenase E1 subunit alpha 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdha1"
      },
      {
        "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": "prmt7",
        "symbol": "PRMT7",
        "hgnc": "HGNC:25557",
        "name": "protein arginine methyltransferase 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prmt7"
      },
      {
        "slug": "sox5",
        "symbol": "SOX5",
        "hgnc": "HGNC:11201",
        "name": "SRY-box transcription factor 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox5"
      },
      {
        "slug": "spart",
        "symbol": "SPART",
        "hgnc": "HGNC:18514",
        "name": "spartin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spart"
      },
      {
        "slug": "srd5a3",
        "symbol": "SRD5A3",
        "hgnc": "HGNC:25812",
        "name": "steroid 5 alpha-reductase 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/srd5a3"
      },
      {
        "slug": "thoc6",
        "symbol": "THOC6",
        "hgnc": "HGNC:28369",
        "name": "THO complex subunit 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/thoc6"
      },
      {
        "slug": "vangl2",
        "symbol": "VANGL2",
        "hgnc": "HGNC:15511",
        "name": "VANGL planar cell polarity protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vangl2"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "hgnc": "HGNC:30881",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg13"
      },
      {
        "slug": "auts2",
        "symbol": "AUTS2",
        "hgnc": "HGNC:14262",
        "name": "activator of transcription and developmental regulator AUTS2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/auts2"
      },
      {
        "slug": "mid1",
        "symbol": "MID1",
        "hgnc": "HGNC:7095",
        "name": "midline 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mid1"
      },
      {
        "slug": "mmachc",
        "symbol": "MMACHC",
        "hgnc": "HGNC:24525",
        "name": "metabolism of cobalamin associated C",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmachc"
      }
    ]
  }
}