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	Kui sageli seda täheldatakse
Autism spectrum disorder	Alati
Brief seizures with staring spells	Alati
Delayed speech and language development	Alati
Global developmental delay	Alati
Intellectual disability	Alati
Poor eye contact	Alati
EEG abnormality	Väga sageli (80–99%)
Absent speech development	Sageli (30–79%)
Anxiety	Sageli (30–79%)
Attention deficit	Sageli (30–79%)
Delayed ability to sit	Sageli (30–79%)
Delayed ability to stand	Sageli (30–79%)
Delayed ability to walk	Sageli (30–79%)
Difficulty articulating speech	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Inability to walk	Sageli (30–79%)
Wide based walk	Sageli (30–79%)
Aggressive behavior	Mõnikord (5–29%)
Increased reflexes	Mõnikord (5–29%)
Jerking	Mõnikord (5–29%)
Repetitive movements	Mõnikord (5–29%)
Self-injurious behavior	Mõnikord (5–29%)
Tremor	Mõnikord (5–29%)

Abnormality of head or neck

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

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Club feet	Alati
Curvature of little finger	Alati
Dislocated radial head	Alati
Curvature of digit	Sageli (30–79%)
Gap between 1st and 2nd toes	Sageli (30–79%)
Hip contracture	Sageli (30–79%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Acid reflux	Sageli (30–79%)
Chronic constipation	Sageli (30–79%)
Feeding difficulties	Sageli (30–79%)
Poor swallowing	Mõnikord (5–29%)

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Cross-eyed	Alati
Inward turning cross eyed	Sageli (30–79%)
Astigmatism	Mõnikord (5–29%)
Outward facing eye ball	Mõnikord (5–29%)

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Loss of bladder control	Sageli (30–79%)
Undescended testes	Sageli (30–79%)
Frequent urinary tract infections	Mõnikord (5–29%)
Hydronephrosis	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Double-Jointed	Alati
Low muscle tone	Sageli (30–79%)
Shoulder contracture	Sageli (30–79%)
Spasticity and rigidity of muscles	Mõnikord (5–29%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Small for gestational age	Alati
Short stature	Sageli (30–79%)

Abnormality of prenatal development or birth

Trait	Kui sageli seda täheldatakse
Premature birth	Sageli (30–79%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Low-set ears	Sageli (30–79%)

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Underactive thyroid	Alati

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Pneumonia	Alati

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Breathing difficulties	Alati

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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