Traits

Traits linked to PACS2

phosphofurin acidic cluster sorting protein 2

The Human Phenotype Ontology links 86 traits to PACS2, 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
Delayed speech and language development	Always
Epilepsy	Always
Global developmental delay	Always
Intellectual disability	Always
Encephalopathy	Very often (80–99%)
Abnormality of coordination	Often (30–79%)
Decreased reflex response	Often (30–79%)
Delayed ability to walk	Often (30–79%)
EEG with multifocal slow activity	Often (30–79%)
Grand mal seizures	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Repetitive movements	Often (30–79%)
Seizure affecting one half of brain	Often (30–79%)
Abnormal corpus callosum morphology	Sometimes (5–29%)
Abnormal gait	Sometimes (5–29%)
Abnormal myelination	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Autism	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Behavioral abnormality	Sometimes (5–29%)
Bilateral tonic-clonic seizure with focal onset	Sometimes (5–29%)
Brain degeneration	Sometimes (5–29%)
Cerebellar vermis hypoplasia	Sometimes (5–29%)
Clonic seizure	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Diminished deep tendon reflex	Sometimes (5–29%)
Disorder of involuntary muscle movements	Sometimes (5–29%)
Focal clonic seizure	Sometimes (5–29%)
Focal tonic seizure	Sometimes (5–29%)
Generalized tonic seizure	Sometimes (5–29%)
Hypsarrhythmia	Sometimes (5–29%)
Impulsivity	Sometimes (5–29%)
Involuntary movements	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Mental deterioration	Sometimes (5–29%)
Myoclonic seizure	Sometimes (5–29%)
Repeated seizures without recovery between them	Sometimes (5–29%)
Tonic seizure	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Unsteady walk	Sometimes (5–29%)
Wide based walk	Sometimes (5–29%)
Epileptic encephalopathy	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Thin red part of the upper lip	Very often (80–99%)
Downturned corners of mouth	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Drooping lower lip	Often (30–79%)
Enlarged cisterna magna	Often (30–79%)
Macrodontia of permanent maxillary central incisor	Often (30–79%)
Monobrow	Often (30–79%)
Wide mouth	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Widely spaced teeth	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Coarse facial features	Sometimes (5–29%)
Failure of development of between one and six teeth	Sometimes (5–29%)
High forehead	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Often (30–79%)
Astigmatism	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Abnormal involuntary eye movements	Rarely (1–4%)
Abnormality of vision	Rarely (1–4%)
Optic atrophy	Rarely (1–4%)
Retina degeneration	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Often (30–79%)
Low muscle tone	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Poor head control	Sometimes (5–29%)
Rigidity	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Heart tip and four chambers point towards right side of body	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Often (30–79%)
Low blood neutrophil count	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Sometimes (5–29%)
Increased muscle tone of arm or leg	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Short stature	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	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 PACS2 and how often each is seen. Find out more at hpo.jax.org.

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