{
  "url": "https://dantelabs.com/traits/short-chin",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "short-chin",
    "id": "HP:0000331",
    "name": "Short chin",
    "definition": "Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.",
    "synonyms": [
      "Decreased height of chin",
      "Short lower third of face",
      "Small chin",
      "Vertical deficiency of chin",
      "Vertical hypoplasia of chin"
    ],
    "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": "abnormality-of-the-chin",
        "name": "Abnormality of the chin",
        "url": "https://dantelabs.com/traits/abnormality-of-the-chin"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "coa6",
        "symbol": "COA6",
        "hgnc": "HGNC:18025",
        "name": "cytochrome c oxidase assembly factor 6",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/coa6"
      },
      {
        "slug": "col9a2",
        "symbol": "COL9A2",
        "hgnc": "HGNC:2218",
        "name": "collagen type IX alpha 2 chain",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col9a2"
      },
      {
        "slug": "fbxl4",
        "symbol": "FBXL4",
        "hgnc": "HGNC:13601",
        "name": "F-box and leucine rich repeat protein 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbxl4"
      },
      {
        "slug": "gtpbp2",
        "symbol": "GTPBP2",
        "hgnc": "HGNC:4670",
        "name": "GTP binding protein 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtpbp2"
      },
      {
        "slug": "hivep2",
        "symbol": "HIVEP2",
        "hgnc": "HGNC:4921",
        "name": "HIVEP zinc finger 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hivep2"
      },
      {
        "slug": "itch",
        "symbol": "ITCH",
        "hgnc": "HGNC:13890",
        "name": "itchy E3 ubiquitin protein ligase",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/itch"
      },
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "hgnc": "HGNC:6636",
        "name": "lamin A/C",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lmna"
      },
      {
        "slug": "man2b2",
        "symbol": "MAN2B2",
        "hgnc": "HGNC:29623",
        "name": "mannosidase alpha class 2B member 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/man2b2"
      },
      {
        "slug": "nsd2",
        "symbol": "NSD2",
        "hgnc": "HGNC:12766",
        "name": "nuclear receptor binding SET domain protein 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nsd2"
      },
      {
        "slug": "pappa2",
        "symbol": "PAPPA2",
        "hgnc": "HGNC:14615",
        "name": "pappalysin 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pappa2"
      },
      {
        "slug": "pik3r1",
        "symbol": "PIK3R1",
        "hgnc": "HGNC:8979",
        "name": "phosphoinositide-3-kinase regulatory subunit 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3r1"
      },
      {
        "slug": "rpl17",
        "symbol": "RPL17",
        "hgnc": "HGNC:10307",
        "name": "ribosomal protein L17",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpl17"
      },
      {
        "slug": "scube3",
        "symbol": "SCUBE3",
        "hgnc": "HGNC:13655",
        "name": "signal peptide, CUB domain and EGF like domain containing 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scube3"
      },
      {
        "slug": "taf4",
        "symbol": "TAF4",
        "hgnc": "HGNC:11537",
        "name": "TATA-box binding protein associated factor 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/taf4"
      },
      {
        "slug": "ap1s2",
        "symbol": "AP1S2",
        "hgnc": "HGNC:560",
        "name": "adaptor related protein complex 1 subunit sigma 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ap1s2"
      },
      {
        "slug": "h19",
        "symbol": "H19",
        "hgnc": "HGNC:4713",
        "name": "H19 imprinted maternally expressed transcript",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/h19"
      },
      {
        "slug": "igf2",
        "symbol": "IGF2",
        "hgnc": "HGNC:5466",
        "name": "insulin like growth factor 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/igf2"
      },
      {
        "slug": "ptf1a",
        "symbol": "PTF1A",
        "hgnc": "HGNC:23734",
        "name": "pancreas associated transcription factor 1a",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ptf1a"
      },
      {
        "slug": "abl1",
        "symbol": "ABL1",
        "hgnc": "HGNC:76",
        "name": "ABL proto-oncogene 1, non-receptor tyrosine kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abl1"
      },
      {
        "slug": "aldh1a2",
        "symbol": "ALDH1A2",
        "hgnc": "HGNC:15472",
        "name": "aldehyde dehydrogenase 1 family member A2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aldh1a2"
      },
      {
        "slug": "asxl3",
        "symbol": "ASXL3",
        "hgnc": "HGNC:29357",
        "name": "ASXL transcriptional regulator 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/asxl3"
      },
      {
        "slug": "cdk10",
        "symbol": "CDK10",
        "hgnc": "HGNC:1770",
        "name": "cyclin dependent kinase 10",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdk10"
      },
      {
        "slug": "cox7b",
        "symbol": "COX7B",
        "hgnc": "HGNC:2291",
        "name": "cytochrome c oxidase subunit 7B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox7b"
      },
      {
        "slug": "cyp26c1",
        "symbol": "CYP26C1",
        "hgnc": "HGNC:20577",
        "name": "cytochrome P450 family 26 subfamily C member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyp26c1"
      },
      {
        "slug": "dst",
        "symbol": "DST",
        "hgnc": "HGNC:1090",
        "name": "dystonin",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dst"
      },
      {
        "slug": "ebf3",
        "symbol": "EBF3",
        "hgnc": "HGNC:19087",
        "name": "EBF transcription factor 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ebf3"
      },
      {
        "slug": "extl3",
        "symbol": "EXTL3",
        "hgnc": "HGNC:3518",
        "name": "exostosin like glycosyltransferase 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/extl3"
      },
      {
        "slug": "fig4",
        "symbol": "FIG4",
        "hgnc": "HGNC:16873",
        "name": "FIG4 phosphoinositide 5-phosphatase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fig4"
      },
      {
        "slug": "map3k7",
        "symbol": "MAP3K7",
        "hgnc": "HGNC:6859",
        "name": "mitogen-activated protein kinase kinase kinase 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/map3k7"
      },
      {
        "slug": "mef2c",
        "symbol": "MEF2C",
        "hgnc": "HGNC:6996",
        "name": "myocyte enhancer factor 2C",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mef2c"
      },
      {
        "slug": "myod1",
        "symbol": "MYOD1",
        "hgnc": "HGNC:7611",
        "name": "myogenic differentiation 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myod1"
      },
      {
        "slug": "ndufs4",
        "symbol": "NDUFS4",
        "hgnc": "HGNC:7711",
        "name": "NADH:ubiquinone oxidoreductase subunit S4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufs4"
      },
      {
        "slug": "pgbd5",
        "symbol": "PGBD5",
        "hgnc": "HGNC:19405",
        "name": "piggyBac transposable element derived 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pgbd5"
      },
      {
        "slug": "rnf13",
        "symbol": "RNF13",
        "hgnc": "HGNC:10057",
        "name": "ring finger protein 13",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rnf13"
      },
      {
        "slug": "slc26a2",
        "symbol": "SLC26A2",
        "hgnc": "HGNC:10994",
        "name": "solute carrier family 26 member 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc26a2"
      },
      {
        "slug": "smc3",
        "symbol": "SMC3",
        "hgnc": "HGNC:2468",
        "name": "structural maintenance of chromosomes 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smc3"
      },
      {
        "slug": "sox11",
        "symbol": "SOX11",
        "hgnc": "HGNC:11191",
        "name": "SRY-box transcription factor 11",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox11"
      },
      {
        "slug": "vac14",
        "symbol": "VAC14",
        "hgnc": "HGNC:25507",
        "name": "VAC14 component of PIKFYVE complex",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vac14"
      },
      {
        "slug": "adnp",
        "symbol": "ADNP",
        "hgnc": "HGNC:15766",
        "name": "activity dependent neuroprotector homeobox",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adnp"
      },
      {
        "slug": "ahdc1",
        "symbol": "AHDC1",
        "hgnc": "HGNC:25230",
        "name": "AT-hook DNA binding motif containing 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ahdc1"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "hgnc": "HGNC:30881",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg13"
      },
      {
        "slug": "bmpr1a",
        "symbol": "BMPR1A",
        "hgnc": "HGNC:1076",
        "name": "bone morphogenetic protein receptor type 1A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bmpr1a"
      },
      {
        "slug": "camk2b",
        "symbol": "CAMK2B",
        "hgnc": "HGNC:1461",
        "name": "calcium/calmodulin dependent protein kinase II beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/camk2b"
      },
      {
        "slug": "ddr2",
        "symbol": "DDR2",
        "hgnc": "HGNC:2731",
        "name": "discoidin domain receptor tyrosine kinase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddr2"
      },
      {
        "slug": "ercc1",
        "symbol": "ERCC1",
        "hgnc": "HGNC:3433",
        "name": "ERCC excision repair 1, endonuclease non-catalytic subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc1"
      },
      {
        "slug": "ercc4",
        "symbol": "ERCC4",
        "hgnc": "HGNC:3436",
        "name": "ERCC excision repair 4, endonuclease catalytic subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc4"
      },
      {
        "slug": "ercc6",
        "symbol": "ERCC6",
        "hgnc": "HGNC:3438",
        "name": "ERCC excision repair 6, chromatin remodeling factor",
        "frequency": "occasional",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/ercc6"
      },
      {
        "slug": "ercc8",
        "symbol": "ERCC8",
        "hgnc": "HGNC:3439",
        "name": "ERCC excision repair 8, CSA ubiquitin ligase complex subunit",
        "frequency": "occasional",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/ercc8"
      },
      {
        "slug": "fbxo31",
        "symbol": "FBXO31",
        "hgnc": "HGNC:16510",
        "name": "F-box protein 31",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbxo31"
      },
      {
        "slug": "grb10",
        "symbol": "GRB10",
        "hgnc": "HGNC:4564",
        "name": "growth factor receptor bound protein 10",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grb10"
      },
      {
        "slug": "man1b1",
        "symbol": "MAN1B1",
        "hgnc": "HGNC:6823",
        "name": "mannosidase alpha class 1B member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/man1b1"
      },
      {
        "slug": "med12",
        "symbol": "MED12",
        "hgnc": "HGNC:11957",
        "name": "mediator complex subunit 12",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/med12"
      },
      {
        "slug": "nrcam",
        "symbol": "NRCAM",
        "hgnc": "HGNC:7994",
        "name": "neuronal cell adhesion molecule",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nrcam"
      },
      {
        "slug": "pigs",
        "symbol": "PIGS",
        "hgnc": "HGNC:14937",
        "name": "phosphatidylinositol glycan anchor biosynthesis class S",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigs"
      },
      {
        "slug": "ppp1r21",
        "symbol": "PPP1R21",
        "hgnc": "HGNC:30595",
        "name": "protein phosphatase 1 regulatory subunit 21",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppp1r21"
      },
      {
        "slug": "prkdc",
        "symbol": "PRKDC",
        "hgnc": "HGNC:9413",
        "name": "protein kinase, DNA-activated, catalytic subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkdc"
      },
      {
        "slug": "pten",
        "symbol": "PTEN",
        "hgnc": "HGNC:9588",
        "name": "phosphatase and tensin homolog",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pten"
      },
      {
        "slug": "rnu4atac",
        "symbol": "RNU4ATAC",
        "hgnc": "HGNC:34016",
        "name": "RNA, U4atac small nuclear",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu4atac"
      },
      {
        "slug": "set",
        "symbol": "SET",
        "hgnc": "HGNC:10760",
        "name": "SET nuclear proto-oncogene",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/set"
      },
      {
        "slug": "slf2",
        "symbol": "SLF2",
        "hgnc": "HGNC:17814",
        "name": "SMC5/6 complex localization factor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slf2"
      },
      {
        "slug": "trio",
        "symbol": "TRIO",
        "hgnc": "HGNC:12303",
        "name": "trio Rho guanine nucleotide exchange factor",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/trio"
      },
      {
        "slug": "zmpste24",
        "symbol": "ZMPSTE24",
        "hgnc": "HGNC:12877",
        "name": "zinc metallopeptidase STE24",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zmpste24"
      },
      {
        "slug": "znf292",
        "symbol": "ZNF292",
        "hgnc": "HGNC:18410",
        "name": "zinc finger protein 292",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf292"
      },
      {
        "slug": "ctcf",
        "symbol": "CTCF",
        "hgnc": "HGNC:13723",
        "name": "CCCTC-binding factor",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctcf"
      },
      {
        "slug": "mtor",
        "symbol": "MTOR",
        "hgnc": "HGNC:3942",
        "name": "mechanistic target of rapamycin kinase",
        "frequency": "very-rare",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mtor"
      },
      {
        "slug": "rnu4-2",
        "symbol": "RNU4-2",
        "hgnc": "HGNC:10193",
        "name": "RNA, U4 small nuclear 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu4-2"
      },
      {
        "slug": "arid1b",
        "symbol": "ARID1B",
        "hgnc": "HGNC:18040",
        "name": "AT-rich interaction domain 1B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arid1b"
      },
      {
        "slug": "eda",
        "symbol": "EDA",
        "hgnc": "HGNC:3157",
        "name": "ectodysplasin A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eda"
      },
      {
        "slug": "flna",
        "symbol": "FLNA",
        "hgnc": "HGNC:3754",
        "name": "filamin A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flna"
      },
      {
        "slug": "mbd5",
        "symbol": "MBD5",
        "hgnc": "HGNC:20444",
        "name": "methyl-CpG binding domain protein 5",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mbd5"
      },
      {
        "slug": "nfia",
        "symbol": "NFIA",
        "hgnc": "HGNC:7784",
        "name": "nuclear factor I A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nfia"
      },
      {
        "slug": "nsun2",
        "symbol": "NSUN2",
        "hgnc": "HGNC:25994",
        "name": "NOP2/Sun RNA methyltransferase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nsun2"
      },
      {
        "slug": "pars2",
        "symbol": "PARS2",
        "hgnc": "HGNC:30563",
        "name": "prolyl-tRNA synthetase 2, mitochondrial",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pars2"
      },
      {
        "slug": "recql4",
        "symbol": "RECQL4",
        "hgnc": "HGNC:9949",
        "name": "RecQ like helicase 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/recql4"
      },
      {
        "slug": "shank3",
        "symbol": "SHANK3",
        "hgnc": "HGNC:14294",
        "name": "SH3 and multiple ankyrin repeat domains 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/shank3"
      },
      {
        "slug": "xrcc4",
        "symbol": "XRCC4",
        "hgnc": "HGNC:12831",
        "name": "X-ray repair cross complementing 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xrcc4"
      },
      {
        "slug": "zbtb24",
        "symbol": "ZBTB24",
        "hgnc": "HGNC:21143",
        "name": "zinc finger and BTB domain containing 24",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zbtb24"
      }
    ]
  }
}