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	Hvor ofte den forekommer
Autism spectrum disorder	Alltid
Brief seizures with staring spells	Alltid
Delayed speech and language development	Alltid
Global developmental delay	Alltid
Intellectual disability	Alltid
Poor eye contact	Alltid
EEG abnormality	Svært ofte (80–99 %)
Absent speech development	Ofte (30–79 %)
Anxiety	Ofte (30–79 %)
Attention deficit	Ofte (30–79 %)
Delayed ability to sit	Ofte (30–79 %)
Delayed ability to stand	Ofte (30–79 %)
Delayed ability to walk	Ofte (30–79 %)
Difficulty articulating speech	Ofte (30–79 %)
Epilepsy	Ofte (30–79 %)
Inability to walk	Ofte (30–79 %)
Wide based walk	Ofte (30–79 %)
Aggressive behavior	Noen ganger (5–29 %)
Increased reflexes	Noen ganger (5–29 %)
Jerking	Noen ganger (5–29 %)
Repetitive movements	Noen ganger (5–29 %)
Self-injurious behavior	Noen ganger (5–29 %)
Tremor	Noen ganger (5–29 %)

Abnormality of head or neck

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

Abnormality of limbs

Trait	Hvor ofte den forekommer
Club feet	Alltid
Curvature of little finger	Alltid
Dislocated radial head	Alltid
Curvature of digit	Ofte (30–79 %)
Gap between 1st and 2nd toes	Ofte (30–79 %)
Hip contracture	Ofte (30–79 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Acid reflux	Ofte (30–79 %)
Chronic constipation	Ofte (30–79 %)
Feeding difficulties	Ofte (30–79 %)
Poor swallowing	Noen ganger (5–29 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Cross-eyed	Alltid
Inward turning cross eyed	Ofte (30–79 %)
Astigmatism	Noen ganger (5–29 %)
Outward facing eye ball	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Loss of bladder control	Ofte (30–79 %)
Undescended testes	Ofte (30–79 %)
Frequent urinary tract infections	Noen ganger (5–29 %)
Hydronephrosis	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Double-Jointed	Alltid
Low muscle tone	Ofte (30–79 %)
Shoulder contracture	Ofte (30–79 %)
Spasticity and rigidity of muscles	Noen ganger (5–29 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Small for gestational age	Alltid
Short stature	Ofte (30–79 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte den forekommer
Premature birth	Ofte (30–79 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Low-set ears	Ofte (30–79 %)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Underactive thyroid	Alltid

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Pneumonia	Alltid

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Breathing difficulties	Alltid

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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