{
  "url": "https://dantelabs.com/traits/tethered-cord",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "tethered-cord",
    "id": "HP:0002144",
    "name": "Tethered cord",
    "definition": "During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.",
    "synonyms": [
      "Occult spinal dysraphism"
    ],
    "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-conus-terminalis-morphology",
        "name": "Abnormal conus terminalis morphology",
        "url": "https://dantelabs.com/traits/abnormal-conus-terminalis-morphology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "amotl1",
        "symbol": "AMOTL1",
        "hgnc": "HGNC:17811",
        "name": "angiomotin like 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/amotl1"
      },
      {
        "slug": "dmrt2",
        "symbol": "DMRT2",
        "hgnc": "HGNC:2935",
        "name": "doublesex and mab-3 related transcription factor 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dmrt2"
      },
      {
        "slug": "hoxa13",
        "symbol": "HOXA13",
        "hgnc": "HGNC:5102",
        "name": "homeobox A13",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hoxa13"
      },
      {
        "slug": "kdm1a",
        "symbol": "KDM1A",
        "hgnc": "HGNC:29079",
        "name": "lysine demethylase 1A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm1a"
      },
      {
        "slug": "kdm6b",
        "symbol": "KDM6B",
        "hgnc": "HGNC:29012",
        "name": "lysine demethylase 6B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm6b"
      },
      {
        "slug": "prmt7",
        "symbol": "PRMT7",
        "hgnc": "HGNC:25557",
        "name": "protein arginine methyltransferase 7",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prmt7"
      },
      {
        "slug": "rad51",
        "symbol": "RAD51",
        "hgnc": "HGNC:9817",
        "name": "RAD51 recombinase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad51"
      },
      {
        "slug": "cplx1",
        "symbol": "CPLX1",
        "hgnc": "HGNC:2309",
        "name": "complexin 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cplx1"
      },
      {
        "slug": "ctbp1",
        "symbol": "CTBP1",
        "hgnc": "HGNC:2494",
        "name": "C-terminal binding protein 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ctbp1"
      },
      {
        "slug": "haao",
        "symbol": "HAAO",
        "hgnc": "HGNC:4796",
        "name": "3-hydroxyanthranilate 3,4-dioxygenase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/haao"
      },
      {
        "slug": "letm1",
        "symbol": "LETM1",
        "hgnc": "HGNC:6556",
        "name": "leucine zipper and EF-hand containing transmembrane protein 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/letm1"
      },
      {
        "slug": "ncapg2",
        "symbol": "NCAPG2",
        "hgnc": "HGNC:21904",
        "name": "non-SMC condensin II complex subunit G2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ncapg2"
      },
      {
        "slug": "nelfa",
        "symbol": "NELFA",
        "hgnc": "HGNC:12768",
        "name": "negative elongation factor complex member A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nelfa"
      },
      {
        "slug": "nfia",
        "symbol": "NFIA",
        "hgnc": "HGNC:7784",
        "name": "nuclear factor I A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nfia"
      },
      {
        "slug": "nsd2",
        "symbol": "NSD2",
        "hgnc": "HGNC:12766",
        "name": "nuclear receptor binding SET domain protein 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nsd2"
      },
      {
        "slug": "pigg",
        "symbol": "PIGG",
        "hgnc": "HGNC:25985",
        "name": "phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigg"
      },
      {
        "slug": "sptssa",
        "symbol": "SPTSSA",
        "hgnc": "HGNC:20361",
        "name": "serine palmitoyltransferase small subunit A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptssa"
      },
      {
        "slug": "traf7",
        "symbol": "TRAF7",
        "hgnc": "HGNC:20456",
        "name": "TNF receptor associated factor 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/traf7"
      },
      {
        "slug": "trappc14",
        "symbol": "TRAPPC14",
        "hgnc": "HGNC:25604",
        "name": "trafficking protein particle complex subunit 14",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trappc14"
      },
      {
        "slug": "arpc4",
        "symbol": "ARPC4",
        "hgnc": "HGNC:707",
        "name": "actin related protein 2/3 complex subunit 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arpc4"
      },
      {
        "slug": "ctnnb1",
        "symbol": "CTNNB1",
        "hgnc": "HGNC:2514",
        "name": "catenin beta 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctnnb1"
      },
      {
        "slug": "dars1",
        "symbol": "DARS1",
        "hgnc": "HGNC:2678",
        "name": "aspartyl-tRNA synthetase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dars1"
      },
      {
        "slug": "fgfrl1",
        "symbol": "FGFRL1",
        "hgnc": "HGNC:3693",
        "name": "fibroblast growth factor receptor like 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfrl1"
      },
      {
        "slug": "hnrnph1",
        "symbol": "HNRNPH1",
        "hgnc": "HGNC:5041",
        "name": "heterogeneous nuclear ribonucleoprotein H1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hnrnph1"
      },
      {
        "slug": "mnx1",
        "symbol": "MNX1",
        "hgnc": "HGNC:4979",
        "name": "motor neuron and pancreas homeobox 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mnx1"
      },
      {
        "slug": "notch3",
        "symbol": "NOTCH3",
        "hgnc": "HGNC:7883",
        "name": "notch receptor 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch3"
      },
      {
        "slug": "pik3ca",
        "symbol": "PIK3CA",
        "hgnc": "HGNC:8975",
        "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3ca"
      },
      {
        "slug": "sall1",
        "symbol": "SALL1",
        "hgnc": "HGNC:10524",
        "name": "spalt like transcription factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sall1"
      },
      {
        "slug": "scaf4",
        "symbol": "SCAF4",
        "hgnc": "HGNC:19304",
        "name": "SR-related CTD associated factor 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scaf4"
      },
      {
        "slug": "supt16h",
        "symbol": "SUPT16H",
        "hgnc": "HGNC:11465",
        "name": "SPT16 homolog, facilitates chromatin remodeling subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/supt16h"
      },
      {
        "slug": "vangl1",
        "symbol": "VANGL1",
        "hgnc": "HGNC:15512",
        "name": "VANGL planar cell polarity protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vangl1"
      },
      {
        "slug": "zmym2",
        "symbol": "ZMYM2",
        "hgnc": "HGNC:12989",
        "name": "zinc finger MYM-type containing 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zmym2"
      },
      {
        "slug": "crebbp",
        "symbol": "CREBBP",
        "hgnc": "HGNC:2348",
        "name": "CREB binding lysine acetyltransferase",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crebbp"
      },
      {
        "slug": "ext1",
        "symbol": "EXT1",
        "hgnc": "HGNC:3512",
        "name": "exostosin glycosyltransferase 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ext1"
      },
      {
        "slug": "ext2",
        "symbol": "EXT2",
        "hgnc": "HGNC:3513",
        "name": "exostosin glycosyltransferase 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ext2"
      }
    ]
  }
}