Traits

Traits linked to YWHAE

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon

The Human Phenotype Ontology links 33 traits to YWHAE, 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
Abnormality of upper lip	Very often (80–99%)
Eye folds	Very often (80–99%)
Frontal bossing	Very often (80–99%)
High forehead	Very often (80–99%)
Narrow mouth	Very often (80–99%)
Nasal tip, upturned	Very often (80–99%)
Short nose	Very often (80–99%)
Wide nose	Very often (80–99%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Short neck	Often (30–79%)
High palate	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Decrease in size of the outer layer of the brain due to loss of brain cells	Very often (80–99%)
EEG abnormality	Very often (80–99%)
Epilepsy	Very often (80–99%)
Fewer or absent grooves in brain	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Ataxia	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Sometimes (5–29%)
Dislocated hip since birth	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Sometimes (5–29%)
Omphalocele	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Kidney damage	Sometimes (5–29%)
Underdeveloped penis	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Very often (80–99%)
Tall stature	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the cardiovascular system	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Spinal dimple	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)

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

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