Traits

Traits linked to DDX11

DEAD/H-box helicase 11

The Human Phenotype Ontology links 24 traits to DDX11, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Eye folds	Always
High palate	Always
Narrow forehead	Always
Sloping forehead	Always
Small face	Always
Wide mouth	Always

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Always
Webbed 2nd and 3rd toes	Always
Single transverse palmar crease	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Cutis marmorata	Always
Hole in heart wall separating two lower heart chambers	Always
Tetralogy of Fallot	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Cupped ear	Always
Hypoplasia of the cochlea	Always
Hearing impairment	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Not recorded
Low muscle tone	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay as children	Always
Prenatal growth deficiency	Always

Abnormality of the eye

Trait	How often it is seen
Optic disc coloboma	Always

Abnormality of the integument

Trait	How often it is seen
Hyperpigmented skin patches	Always

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 DDX11 and how often each is seen. Find out more at hpo.jax.org.

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