Traits

Traits linked to PABPN1

poly(A) binding protein nuclear 1

The Human Phenotype Ontology links 35 traits to PABPN1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Proximal neurogenic muscle weakness	Always
Abnormal muscle fiber morphology	Very often (80–99%)
Displacement of one backbone compared to another	Very often (80–99%)
Muscle tissue disease	Very often (80–99%)
Ragged-red muscle fibers	Very often (80–99%)
Rimmed vacuoles	Very often (80–99%)
Angulated muscle fibers	Often (30–79%)
Axial muscle weakness	Often (30–79%)
Fatty replacement of skeletal muscle	Often (30–79%)
Neck muscle weakness	Not recorded
Weakness of outermost muscles	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Tongue muscle weakness	Often (30–79%)
Wasting of the tongue	Often (30–79%)
Weakness of facial musculature	Often (30–79%)
Expressionless face	Sometimes (5–29%)
Bell's palsy	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Always
Cognitive impairment	Rarely (1–4%)
Pauses in breathing while sleeping	Rarely (1–4%)
Difficulty articulating speech	Not recorded

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Always
Progressive drooping of upper eyelid	Always
Eye muscle paralysis	Very often (80–99%)

Abnormality of the voice

Trait	How often it is seen
Nasal speech	Always
Inability to produce voice sounds	Often (30–79%)
Wet voice	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Limb-girdle muscle weakness	Often (30–79%)
Limb muscle weakness	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Very often (80–99%)
Feeding difficulties	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Very often (80–99%)
Pain	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Muscle fiber intranuclear inclusion bodies	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Reduced forced expiratory volume in one second	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	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 PABPN1 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