Traits

Traits linked to PLPBP

pyridoxal phosphate binding protein

The Human Phenotype Ontology links 56 traits to PLPBP, 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
Epilepsy	Always
Global developmental delay	Always
Tonic seizure	Always
Delayed speech and language development	Very often (80–99%)
Early onset absence seizures	Often (30–79%)
EEG with burst suppression	Often (30–79%)
EEG with generalized slow activity	Often (30–79%)
Focal aware motor seizure	Often (30–79%)
Grand mal seizures	Often (30–79%)
Irritability	Often (30–79%)
Jerking	Often (30–79%)
Motor delay	Often (30–79%)
Myoclonic seizure	Often (30–79%)
Neurodevelopmental delay	Often (30–79%)
Repeated seizures without recovery between them	Often (30–79%)
Seizure affecting one half of brain	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Brain degeneration	Sometimes (5–29%)
Clonic seizure	Sometimes (5–29%)
Delayed CNS myelination	Sometimes (5–29%)
EEG with generalized epileptiform discharges	Sometimes (5–29%)
EEG with generalized sharp slow waves	Sometimes (5–29%)
Epileptic spasm	Sometimes (5–29%)
Focal myoclonic seizure	Sometimes (5–29%)
Hypsarrhythmia	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Multifocal epileptiform discharges	Sometimes (5–29%)
Restlessness	Sometimes (5–29%)
Sudden loss of muscle tone	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Widened subarachnoid space	Sometimes (5–29%)
Poor speech	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Development of small head that was not present at birth	Very often (80–99%)
Thin red part of the upper lip	Often (30–79%)
Enlarged cisterna magna	Sometimes (5–29%)
Facial grimacing	Sometimes (5–29%)
Fullness around the eyes	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Fetal distress	Often (30–79%)
Low APGAR score	Often (30–79%)
Prenatal movement abnormality	Often (30–79%)
Meconium stained amniotic fluid	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Neonatal respiratory distress	Often (30–79%)
Respiratory function loss	Often (30–79%)
Apnea	Sometimes (5–29%)
Neonatal asphyxia	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Often (30–79%)
Metabolic acidosis	Often (30–79%)
Increased lactate in body	Rarely (1–4%)
Low blood sugar	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Abnormality of eye movement	Sometimes (5–29%)
Esodeviation	Sometimes (5–29%)

Abnormality of the musculoskeletal system

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

Abnormality of the digestive system

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

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

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