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Traits
Traits linked to DDC
dopa decarboxylase
The Human Phenotype Ontology links 60 traits to DDC, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Diminished movement | Always |
| Involuntary writhing movements in fingers, hands, toes, and feet | Always |
| Limb dystonia | Always |
| Oculogyric crisis | Always |
| Can't control feelings | Very often (80–99%) |
| Global developmental delay | Very often (80–99%) |
| Irritability | Very often (80–99%) |
| Tongue thrusting | Very often (80–99%) |
| Behavioral abnormality | Often (30–79%) |
| Difficulty sleeping | Often (30–79%) |
| Dystonia | Often (30–79%) |
| Epilepsy | Often (30–79%) |
| Exaggerated startle response | Often (30–79%) |
| Increased reflexes | Often (30–79%) |
| Intellectual disability | Often (30–79%) |
| Jerking | Often (30–79%) |
| Lethargy | Often (30–79%) |
| Limb tremor | Often (30–79%) |
| Motor delay | Often (30–79%) |
| Autism spectrum disorder | Sometimes (5–29%) |
| Babinski sign | Sometimes (5–29%) |
| Decreased muscle movement | Sometimes (5–29%) |
| Difficulty articulating speech | Sometimes (5–29%) |
| Diminished deep tendon reflex | Sometimes (5–29%) |
| Disorder of involuntary muscle movements | Sometimes (5–29%) |
| EEG abnormality | Sometimes (5–29%) |
| Tremor | Rarely (1–4%) |
| Choreoathetosis | Not recorded |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Decreased CSF 5-hydroxyindolacetic acid concentration | Very often (80–99%) |
| Decreased CSF homovanillic acid concentration | Very often (80–99%) |
| Low blood sugar | Sometimes (5–29%) |
| Elevated urinary vanillactic acid level | Not recorded |
| Intermittent hypothermia | Not recorded |
| Reduced circulating aromatic L-amino acid decarboxylase activity | Not recorded |
| Temperature instability | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Acid reflux | Very often (80–99%) |
| Constipation | Often (30–79%) |
| Diarrhea | Often (30–79%) |
| Feeding difficulties | Often (30–79%) |
| Feeding difficulties in infancy | Often (30–79%) |
| Poor swallowing | Sometimes (5–29%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Blockage of nose | Often (30–79%) |
| Eyelid spasm | Often (30–79%) |
| Wry neck | Often (30–79%) |
| Drooling | Sometimes (5–29%) |
| Abnormality of the face | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Low muscle tone in trunk | Always |
| Low muscle tone | Often (30–79%) |
| Poor head control | Often (30–79%) |
| Joint contracture | Rarely (1–4%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Drooping upper eyelid | Often (30–79%) |
| Constricted pupils | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Apnea | Often (30–79%) |
| Cardiorespiratory arrest | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Faltering weight | Often (30–79%) |
| Short stature | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Increased muscle tone of arm or leg | Always |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Low blood pressure | Sometimes (5–29%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Increased circulating prolactin concentration | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Excessive sweating | 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 DDC and how often each is seen. Find out more at hpo.jax.org.
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