Traits

Traits linked to DDX6

DEAD-box helicase 6

The Human Phenotype Ontology links 48 traits to DDX6, by body system: features seen in people with one of the gene's rare conditions.

DDX6

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Eye folds	Often (30–79%)
Highly arched eyebrow	Often (30–79%)
Narrow eyelid opening	Often (30–79%)
Delayed cranial suture closure	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Hyposmia	Sometimes (5–29%)
Narrow forehead	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Always
Global developmental delay	Always
Intellectual disability	Always
Abnormal gait	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Delayed CNS myelination	Sometimes (5–29%)
Repetitive movements	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Short penis	Often (30–79%)
Undescended testes	Often (30–79%)
Hydronephrosis	Sometimes (5–29%)
Pelvic kidney	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Overlapping toe	Often (30–79%)
Tapered finger	Often (30–79%)
Tibial torsion	Sometimes (5–29%)
Webbed 2nd and 3rd toes	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Farsightedness	Often (30–79%)
Wide-set eyes	Often (30–79%)
Asymmetric pupil sizes	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Advanced bone age	Sometimes (5–29%)
Low muscle tone in trunk	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Aberrant right subclavian artery	Often (30–79%)
Patent foramen ovale	Often (30–79%)
Heart murmur	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Anteriorly placed anus	Sometimes (5–29%)
Inguinal hernia	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Sometimes (5–29%)
Only one artery in umbilical cord instead of two	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)
Overfolded ears	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Accessory nipple	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Photosensitive skin	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Obesity	Often (30–79%)

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.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to DDX6 and how often each is seen. Find out more at hpo.jax.org.

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