Traits

Traits linked to DHX16

DEAH-box helicase 16

The Human Phenotype Ontology links 32 traits to DHX16, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Absent reflexes	Sometimes (5–29%)
Agenesis of corpus callosum	Sometimes (5–29%)
Grand mal seizures	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Peripheral hypomyelination	Sometimes (5–29%)
Sensory axonal neuropathy	Sometimes (5–29%)
Unsteady walk	Sometimes (5–29%)
Decreased amplitude of sensory action potentials	Not recorded
Decreased nerve conduction velocity	Not recorded
Intellectual disability	Not recorded
Periventricular heterotopia	Not recorded

Abnormality of limbs

Trait	How often it is seen
Club feet	Sometimes (5–29%)
Inability to straighten knee	Sometimes (5–29%)
Increased size of calf muscles	Sometimes (5–29%)
Wrist flexion contracture	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Often (30–79%)
EMG: myopathic abnormalities	Sometimes (5–29%)
Muscle fiber necrosis	Sometimes (5–29%)
Poor head control	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)
Simple ear	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Chorioretinal lacunae	Sometimes (5–29%)
Retinal pigment epithelial mottling	Sometimes (5–29%)
Slow eye movements	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Multiple kidney cysts	Sometimes (5–29%)
Reduced renal corticomedullary differentiation	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Aspiration	Sometimes (5–29%)
Breathing difficulties	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Eye folds	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Sometimes (5–29%)

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 DHX16 and how often each is seen. Find out more at hpo.jax.org.

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