Traits

Traits linked to STAMBP

STAM binding protein

The Human Phenotype Ontology links 40 traits to STAMBP, 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
Extra-axial cerebrospinal fluid accumulation	Always
Global developmental delay	Always
Simplified gyral pattern	Always
Small hippocampus	Very often (80–99%)
CNS hypomyelination	Often (30–79%)
Infantile spasms	Often (30–79%)
Jerking	Often (30–79%)
Degeneration of cerebrum	Not recorded
Delayed myelination	Not recorded
Epilepsy	Not recorded
Severe global developmental delay	Not recorded
Underdevelopment of part of brain called corpus callosum	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Progressively abnormally small cranium	Always
Cleft palate	Not recorded
Decreased size of maxilla	Not recorded
Short nose	Not recorded
Sloping forehead	Not recorded
Wide nose	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Not recorded
Hole in heart wall separating two lower heart chambers	Not recorded
Patent foramen ovale	Not recorded
Right ventricular hypertrophy	Not recorded

Abnormality of limbs

Trait	How often it is seen
Short outermost finger bone	Very often (80–99%)
Curvature of digit	Not recorded
Short fingers or toes	Not recorded

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	Often (30–79%)
Drooping upper eyelid	Not recorded
Wide-set eyes	Not recorded

Abnormality of the integument

Trait	How often it is seen
Capillary malformation	Always
Abnormal hair whorl	Not recorded
Small nail	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Spastic tetraparesis	Very often (80–99%)
Generalized decreased muscle tone	Not recorded
Low muscle tone	Not recorded

Growth abnormality

Trait	How often it is seen
Small for gestational age	Often (30–79%)
Short stature	Sometimes (5–29%)
Faltering weight	Not recorded

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Not recorded
Low-set ears	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Vesicoureteral reflux	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 STAMBP and how often each is seen. Find out more at hpo.jax.org.

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