Trait

Tethered cord

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.

HPO HP:0002144

Also called: Occult spinal dysraphism
Body system: Abnormality of the nervous system

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35 genes linked to Tethered cord

Changes in these genes cause rare conditions in which Tethered cord is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
AMOTL1angiomotin like 1	Always	In 1 condition
DMRT2doublesex and mab-3 related transcription factor 2	Always	In 1 condition
HOXA13homeobox A13	Always	In 1 condition
KDM1Alysine demethylase 1A	Always	In 1 condition
KDM6Blysine demethylase 6B	Always	In 1 condition
PRMT7protein arginine methyltransferase 7	Always	In 1 condition
RAD51RAD51 recombinase	Always	In 1 condition
CPLX1complexin 1	Often (30–79%)	In 2 conditions
CTBP1C-terminal binding protein 1	Often (30–79%)	In 2 conditions
HAAO3-hydroxyanthranilate 3,4-dioxygenase	Often (30–79%)	In 1 condition
LETM1leucine zipper and EF-hand containing transmembrane protein 1	Often (30–79%)	In 2 conditions
NCAPG2non-SMC condensin II complex subunit G2	Often (30–79%)	In 1 condition
NELFAnegative elongation factor complex member A	Often (30–79%)	In 1 condition
NFIAnuclear factor I A	Often (30–79%)	In 1 condition
NSD2nuclear receptor binding SET domain protein 2	Often (30–79%)	In 2 conditions
PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)	Often (30–79%)	In 1 condition
SPTSSAserine palmitoyltransferase small subunit A	Often (30–79%)	In 1 condition
TRAF7TNF receptor associated factor 7	Often (30–79%)	In 1 condition
TRAPPC14trafficking protein particle complex subunit 14	Often (30–79%)	In 1 condition
ARPC4actin related protein 2/3 complex subunit 4	Sometimes (5–29%)	In 1 condition
CTNNB1catenin beta 1	Sometimes (5–29%)	In 1 condition
DARS1aspartyl-tRNA synthetase 1	Sometimes (5–29%)	In 1 condition
FGFRL1fibroblast growth factor receptor like 1	Sometimes (5–29%)	In 1 condition
HNRNPH1heterogeneous nuclear ribonucleoprotein H1	Sometimes (5–29%)	In 1 condition
MNX1motor neuron and pancreas homeobox 1	Sometimes (5–29%)	In 2 conditions
NOTCH3notch receptor 3	Sometimes (5–29%)	In 1 condition
PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Sometimes (5–29%)	In 1 condition
SALL1spalt like transcription factor 1	Sometimes (5–29%)	In 1 condition
SCAF4SR-related CTD associated factor 4	Sometimes (5–29%)	In 1 condition
SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit	Sometimes (5–29%)	In 1 condition
VANGL1VANGL planar cell polarity protein 1	Sometimes (5–29%)	In 1 condition
ZMYM2zinc finger MYM-type containing 2	Sometimes (5–29%)	In 1 condition
CREBBPCREB binding lysine acetyltransferase	Rarely (1–4%)	In 1 condition
EXT1exostosin glycosyltransferase 1	Rarely (1–4%)	In 1 condition
EXT2exostosin glycosyltransferase 2	Rarely (1–4%)	In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormal conus terminalis morphology

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

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