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Traits
Traits linked to ADCY6
adenylate cyclase 6
The Human Phenotype Ontology links 18 traits to ADCY6, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Distal arthrogryposis | Always |
| Distal muscle wasting | Always |
| Low muscle tone | Always |
| EMG abnormality | Very often (80–99%) |
| Limitation of joint mobility | Very often (80–99%) |
| Flexed joint that cannot be straightened | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Absent reflexes | Always |
| Decreased sensation in extremities | Always |
| Inability to move vocal cords | Always |
| Peripheral hypomyelination | Always |
| Diminished deep tendon reflex | Very often (80–99%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Hammertoe | Always |
| High-arched foot | Always |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Feeding difficulties | Always |
| Oral-pharyngeal dysphagia | Not recorded |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Facial diplegia | Always |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Less than 10 fetal movements in 12 hours | Always |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Breathing difficulties | Very often (80–99%) |
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 ADCY6 and how often each is seen. Find out more at hpo.jax.org.
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