Traits

Traits linked to DTYMK

deoxythymidylate kinase

The Human Phenotype Ontology links 40 traits to DTYMK, 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
Intellectual disability	Always
Widened subarachnoid space	Always
Babinski sign	Often (30–79%)
Cerebral palsy	Often (30–79%)
Clonus	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
Epilepsy	Often (30–79%)
Febrile seizure (within the age range of 3 months to 6 years)	Often (30–79%)
Gliosis	Often (30–79%)
Increased reflexes	Often (30–79%)
Jerking	Often (30–79%)
Lateral ventricle dilatation	Often (30–79%)
Limb dystonia	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Repeated seizures without recovery between them	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Opisthotonus	Often (30–79%)
Spastic tetraplegia	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Small head present at birth	Always
Abnormally small head	Often (30–79%)
Full cheeks	Often (30–79%)
Narrow forehead	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Poor swallowing	Often (30–79%)
Tube feeding	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Feet or buttocks of fetus positioned near opening of uterus	Often (30–79%)
High levels of amniotic fluid	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Short penis	Often (30–79%)
Undescended testes	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Often (30–79%)
Softening of voice box tissue	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Often (30–79%)
Small for gestational age	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Always
Increased blood alanine	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Cerebral visual impairment	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 DTYMK and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test