Traits

Traits linked to PPFIBP1

PPFIB scaffold protein 1

The Human Phenotype Ontology links 43 traits to PPFIBP1, 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
CNS demyelination	Always
Periventricular leukomalacia	Always
Absent speech development	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Motor delay	Very often (80–99%)
Epileptic spasm	Often (30–79%)
Generalized-onset seizure	Often (30–79%)
Leukoencephalopathy	Often (30–79%)
Myoclonic seizure	Often (30–79%)
Seizure affecting one half of brain	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Bilateral tonic-clonic seizure with focal onset	Sometimes (5–29%)
Cerebellar vermis hypoplasia	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Fewer and broader ridges in brain	Sometimes (5–29%)
Focal impaired awareness seizure	Sometimes (5–29%)
Frontal polymicrogyria	Sometimes (5–29%)
Gray matter heterotopia	Sometimes (5–29%)
Hypsarrhythmia	Sometimes (5–29%)
Tonic seizure	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Metopic synostosis	Always
Small head present at birth	Always
Abnormally small head	Very often (80–99%)
Blake's pouch cyst	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Patent ductus arteriosus	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Coronary artery fistula	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal deposits of calcium in the brain	Always
Low muscle tone	Often (30–79%)
Spastic tetraplegia	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)

Growth abnormality

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

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney on one side	Often (30–79%)
Undescended testes	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)

Abnormality of the ear

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

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	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 PPFIBP1 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test