Traits

Traits linked to ADCY5

adenylate cyclase 5

The Human Phenotype Ontology links 44 traits to ADCY5, 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
Anxiety	Always
Chorea	Always
Delayed ability to roll over	Always
Delayed ability to sit	Always
Delayed ability to walk	Always
Delayed speech and language development	Always
Difficulty articulating speech	Always
Dystonia	Always
Global developmental delay	Always
Jerking	Always
Obsessive compulsive behavior	Always
Thin corpus callosum	Always
Tremor	Always
Abnormal gait	Very often (80–99%)
Abnormality of movement	Very often (80–99%)
Intellectual disability, severe	Very often (80–99%)
Orofacial dyskinesia	Very often (80–99%)
Agitation	Often (30–79%)
Choreoathetosis	Often (30–79%)
Disorder of involuntary muscle movements	Often (30–79%)
Increased reflexes	Often (30–79%)
Involuntary movements	Often (30–79%)
IQ between 34 and 49	Often (30–79%)
Motor delay	Often (30–79%)
Paroxysmal dyskinesia	Often (30–79%)
Poor eye contact	Often (30–79%)
Resting tremor	Often (30–79%)
Small brainstem	Often (30–79%)
Delayed motor skills	Sometimes (5–29%)
Intellectual disability	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Always
Poor head control	Always
Camptocormia	Often (30–79%)
Frequent falls	Often (30–79%)
Generalized muscle weakness	Often (30–79%)
Low muscle tone	Often (30–79%)
Neck muscle weakness	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Disease of the heart muscle	Often (30–79%)
Cardiac failure	Sometimes (5–29%)
Stretched and thinned heart muscle	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Involuntary facial quivering	Very often (80–99%)

Abnormality of limbs

Trait	How often it is seen
Increased muscle tone of arm or leg	Always

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	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 ADCY5 and how often each is seen. Find out more at hpo.jax.org.

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