Traits

Traits linked to PPFIA3

PPFI scaffold protein A3

The Human Phenotype Ontology links 74 traits to PPFIA3, 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
Autism spectrum disorder	Always
Brief seizures with staring spells	Always
Delayed speech and language development	Always
Global developmental delay	Always
Intellectual disability	Always
Poor eye contact	Always
EEG abnormality	Very often (80–99%)
Absent speech development	Often (30–79%)
Anxiety	Often (30–79%)
Attention deficit	Often (30–79%)
Delayed ability to sit	Often (30–79%)
Delayed ability to stand	Often (30–79%)
Delayed ability to walk	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Epilepsy	Often (30–79%)
Inability to walk	Often (30–79%)
Wide based walk	Often (30–79%)
Aggressive behavior	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Repetitive movements	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)
Tremor	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Asymmetry of the posterior head	Always
Bad bite	Always
Broad eyebrow	Always
Decreased facial expressions	Always
High forehead	Always
Increased size of tooth	Always
Long eyelashes	Always
Long face	Always
Prominent forehead	Always
Thin red part of the upper lip	Always
Triangular face	Always
Wide mouth	Always
Wide nasal bridge	Always
Wide nose	Always
Widely spaced teeth	Always
Abnormally small head	Often (30–79%)
Almond shaped eyes	Often (30–79%)
Big calvaria	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Drooling	Often (30–79%)
Monobrow	Often (30–79%)
Prominent nasal tip	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Club feet	Always
Curvature of little finger	Always
Dislocated radial head	Always
Curvature of digit	Often (30–79%)
Gap between 1st and 2nd toes	Often (30–79%)
Hip contracture	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Often (30–79%)
Chronic constipation	Often (30–79%)
Feeding difficulties	Often (30–79%)
Poor swallowing	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Always
Inward turning cross eyed	Often (30–79%)
Astigmatism	Sometimes (5–29%)
Outward facing eye ball	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Often (30–79%)
Undescended testes	Often (30–79%)
Frequent urinary tract infections	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
Low muscle tone	Often (30–79%)
Shoulder contracture	Often (30–79%)
Spasticity and rigidity of muscles	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Small for gestational age	Always
Short stature	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Always

Abnormality of the immune system

Trait	How often it is seen
Pneumonia	Always

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Always

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 PPFIA3 and how often each is seen. Find out more at hpo.jax.org.

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