Traits

Traits linked to DHTKD1

dehydrogenase E1 and transketolase domain containing 1

The Human Phenotype Ontology links 19 traits to DHTKD1, 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
Decreased reflex response	Always
Global developmental delay	Always
Mild global developmental delay	Always
Somatic sensory dysfunction	Always
Impaired distal vibration sensation	Very often (80–99%)
Attention deficit	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Autism	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Abnormal gait	Not recorded

Laboratory abnormality

Trait	How often it is seen
2-hydroxyadipic aciduria	Always
Alpha-aminoadipic aciduria	Always
Elevated circulating 2-aminoadipic acid concentration	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Distal lower limb muscle weakness	Always
High-arched foot	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle degeneration	Always
Low muscle tone	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	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 DHTKD1 and how often each is seen. Find out more at hpo.jax.org.

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