Traits

Traits linked to TXNL4A

thioredoxin like 4A

The Human Phenotype Ontology links 36 traits to TXNL4A, 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
Short opening between the eyelids	Always
Bilateral blockage of the rear opening of the nasal cavity	Very often (80–99%)
Cleft lower eyelid	Very often (80–99%)
Prominent nasal bridge	Very often (80–99%)
Short philtrum	Very often (80–99%)
Decreased volume of lip	Often (30–79%)
Little lower jaw	Often (30–79%)
Skin tag in front of the ear	Often (30–79%)
Abnormality of the palate	Sometimes (5–29%)
Bifid uvula	Sometimes (5–29%)
Narrow mouth	Sometimes (5–29%)
Short nose	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)
Big lower jaw	Not recorded
Bilateral choanal atresia/stenosis	Not recorded
Blockage of the rear opening of the nasal cavity	Not recorded
Cleft palate	Not recorded
Cleft upper lip	Not recorded
Decreased facial expressions	Not recorded
Narrow opening between the eyelids	Not recorded
Underdeveloped tissue around nostril	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiac septum morphology	Often (30–79%)
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

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)
Prominent ear	Often (30–79%)
Conductive deafness	Not recorded

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Very often (80–99%)
Abnormality of the eye	Sometimes (5–29%)
Abnormality of vision	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Sometimes (5–29%)
Feeding difficulties in infancy	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney on one side	Sometimes (5–29%)
Small kidneys	Not recorded

Abnormality of limbs

Trait	How often it is seen
Webbed 2nd and 3rd toes	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	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 TXNL4A and how often each is seen. Find out more at hpo.jax.org.

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