Traits

Traits linked to PUM1

pumilio RNA binding family member 1

The Human Phenotype Ontology links 49 traits to PUM1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Low hanging columella	Always
Sparse eyebrow	Always
Sparse eyelashes	Always
High palate	Very often (80–99%)
Abnormally small head	Often (30–79%)
Almond shaped eyes	Often (30–79%)
Eye folds	Often (30–79%)
Narrow forehead	Often (30–79%)
Pointed chin	Often (30–79%)
Prominent nose	Often (30–79%)
Sloping forehead	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Failure of development of more than six teeth	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Decreased reflex response	Always
Delayed ability to walk	Always
Dilated fourth ventricle	Always
Generalized-onset seizure	Always
Global developmental delay	Always
Grand mal seizures	Always
Intellectual disability	Always
Stereotypical hand wringing	Always
Thin corpus callosum	Always
Ataxia	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
Repeated seizures without recovery between them	Often (30–79%)
Typical absence seizure	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Appendicular hypotonia	Always
Double-Jointed	Always
Funnel chest	Always
Low muscle tone	Always
Low muscle tone in trunk	Always
Low solidness and mass of the bones	Always
Scoliosis	Always

Abnormality of limbs

Trait	How often it is seen
Curvature of digit	Always
Fused toes	Always
Short middle bone of the little finger	Always
Small hand	Always
Tapered finger	Always

Abnormality of the eye

Trait	How often it is seen
Cerebral visual impairment	Always
Wide-set eyes	Always
Drooping upper eyelid	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Always
Hypospadias	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness	Always
Fine hair	Always

Growth abnormality

Trait	How often it is seen
Short stature	Often (30–79%)
Prenatal growth deficiency	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	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 PUM1 and how often each is seen. Find out more at hpo.jax.org.

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