{
  "url": "https://dantelabs.com/traits/elfin-facies",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "elfin-facies",
    "id": "HP:0004428",
    "name": "Elf-like facial appearance",
    "label": "Elfin facies",
    "definition": "This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.",
    "synonyms": [
      "Elf-like facial features"
    ],
    "systems": [
      {
        "slug": "abnormality-of-head-or-neck",
        "name": "Abnormality of head or neck",
        "url": "https://dantelabs.com/traits/abnormality-of-head-or-neck"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "farsa",
        "symbol": "FARSA",
        "hgnc": "HGNC:3592",
        "name": "phenylalanyl-tRNA synthetase subunit alpha",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/farsa"
      },
      {
        "slug": "hephl1",
        "symbol": "HEPHL1",
        "hgnc": "HGNC:30477",
        "name": "hephaestin like 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hephl1"
      },
      {
        "slug": "itpr1",
        "symbol": "ITPR1",
        "hgnc": "HGNC:6180",
        "name": "inositol 1,4,5-trisphosphate receptor type 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itpr1"
      },
      {
        "slug": "baz1b",
        "symbol": "BAZ1B",
        "hgnc": "HGNC:961",
        "name": "bromodomain adjacent to zinc finger domain 1B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/baz1b"
      },
      {
        "slug": "bud23",
        "symbol": "BUD23",
        "hgnc": "HGNC:16405",
        "name": "BUD23 rRNA methyltransferase and ribosome maturation factor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bud23"
      },
      {
        "slug": "clip2",
        "symbol": "CLIP2",
        "hgnc": "HGNC:2586",
        "name": "CAP-Gly domain containing linker protein 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/clip2"
      },
      {
        "slug": "dnajc30",
        "symbol": "DNAJC30",
        "hgnc": "HGNC:16410",
        "name": "DnaJ heat shock protein family (Hsp40) member C30",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnajc30"
      },
      {
        "slug": "eif4h",
        "symbol": "EIF4H",
        "hgnc": "HGNC:12741",
        "name": "eukaryotic translation initiation factor 4H",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eif4h"
      },
      {
        "slug": "eln",
        "symbol": "ELN",
        "hgnc": "HGNC:3327",
        "name": "elastin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eln"
      },
      {
        "slug": "fkbp6",
        "symbol": "FKBP6",
        "hgnc": "HGNC:3722",
        "name": "FKBP prolyl isomerase family member 6 (inactive)",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fkbp6"
      },
      {
        "slug": "gtf2i",
        "symbol": "GTF2I",
        "hgnc": "HGNC:4659",
        "name": "general transcription factor IIi",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2i"
      },
      {
        "slug": "gtf2ird1",
        "symbol": "GTF2IRD1",
        "hgnc": "HGNC:4661",
        "name": "GTF2I repeat domain containing 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2ird1"
      },
      {
        "slug": "gtf2ird2",
        "symbol": "GTF2IRD2",
        "hgnc": "HGNC:30775",
        "name": "GTF2I repeat domain containing 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2ird2"
      },
      {
        "slug": "limk1",
        "symbol": "LIMK1",
        "hgnc": "HGNC:6613",
        "name": "LIM domain kinase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/limk1"
      },
      {
        "slug": "mettl27",
        "symbol": "METTL27",
        "hgnc": "HGNC:19068",
        "name": "methyltransferase like 27",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mettl27"
      },
      {
        "slug": "ncf1",
        "symbol": "NCF1",
        "hgnc": "HGNC:7660",
        "name": "neutrophil cytosolic factor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ncf1"
      },
      {
        "slug": "rfc2",
        "symbol": "RFC2",
        "hgnc": "HGNC:9970",
        "name": "replication factor C subunit 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfc2"
      },
      {
        "slug": "stx1a",
        "symbol": "STX1A",
        "hgnc": "HGNC:11433",
        "name": "syntaxin 1A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stx1a"
      },
      {
        "slug": "tbl2",
        "symbol": "TBL2",
        "hgnc": "HGNC:11586",
        "name": "transducin beta like 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbl2"
      },
      {
        "slug": "tmem270",
        "symbol": "TMEM270",
        "hgnc": "HGNC:23018",
        "name": "transmembrane protein 270",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem270"
      },
      {
        "slug": "vps37d",
        "symbol": "VPS37D",
        "hgnc": "HGNC:18287",
        "name": "VPS37D subunit of ESCRT-I",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps37d"
      },
      {
        "slug": "insr",
        "symbol": "INSR",
        "hgnc": "HGNC:6091",
        "name": "insulin receptor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/insr"
      }
    ]
  }
}