Traits

Traits linked to PRKAR1B

protein kinase cAMP-dependent type I regulatory subunit beta

The Human Phenotype Ontology links 59 traits to PRKAR1B, 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
Attention deficit	Always
Autism spectrum disorder	Always
Delayed speech and language development	Always
Dementia	Always
Global developmental delay	Always
Speech apraxia	Always
Abnormal neuron shape	Very often (80–99%)
Frontotemporal dementia	Very often (80–99%)
Inappropriate behavior	Very often (80–99%)
Memory impairment	Very often (80–99%)
Progressive degeneration of movement	Very often (80–99%)
Aggressive behavior	Often (30–79%)
Anxiety	Often (30–79%)
Balance impairment	Often (30–79%)
Diffuse cerebral atrophy	Often (30–79%)
Falls	Often (30–79%)
Impaired visuospatial constructive cognition	Often (30–79%)
Inertia	Often (30–79%)
Lack of feeling, emotion, interest	Often (30–79%)
Language impairment	Often (30–79%)
Obstructive sleep apnea	Often (30–79%)
Parkinsonism	Often (30–79%)
Short attention span	Often (30–79%)
Short stepped shuffling walk	Often (30–79%)
Shuffled walk	Often (30–79%)
Slow movements	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Frontotemporal cerebral atrophy	Sometimes (5–29%)
Happy demeanor	Sometimes (5–29%)
Hemidystonia	Sometimes (5–29%)
Recurrent hand flapping	Sometimes (5–29%)
Sensory seeking	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Motor neuron atrophy	Not recorded
Spinocerebellar tract degeneration	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Eye folds	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Asymmetry of the posterior head	Sometimes (5–29%)
Broad nasal tip	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Downturned corners of mouth	Sometimes (5–29%)
Narrow forehead	Sometimes (5–29%)
Round face	Sometimes (5–29%)
Short opening between the eyelids	Sometimes (5–29%)
Submucous cleft hard palate	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)
Wry neck	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormally close eyes	Sometimes (5–29%)
Astigmatism	Sometimes (5–29%)
Inward turning cross eyed	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Short fingers or toes	Sometimes (5–29%)
Tapered finger	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Sometimes (5–29%)
Recurrent middle ear infection	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone, in neonatal onset	Always
Muscle stiffness	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Enuresis nocturna	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Obesity	Sometimes (5–29%)

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 PRKAR1B and how often each is seen. Find out more at hpo.jax.org.

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