Traits

Traits linked to TXNDC15

thioredoxin domain containing 15

The Human Phenotype Ontology links 68 traits to TXNDC15, 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
Brain tissue sticks out through back of skull	Always
Increased nuchal translucency	Always
Nasal tip, upturned	Always
Receding chin	Always
Short neck	Always
Soft skullcap	Always
Abnormally small head	Very often (80–99%)
Encephalocele	Very often (80–99%)
Cleft palate	Often (30–79%)
Flat nose	Often (30–79%)
Full cheeks	Often (30–79%)
Little lower jaw	Often (30–79%)
Sloping forehead	Often (30–79%)
Aplasia/Hypoplasia of the tongue	Sometimes (5–29%)
Dandy-Walker malformation	Sometimes (5–29%)
Grooved tongue	Sometimes (5–29%)
Small retruded chin	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormal chorioretinal morphology	Often (30–79%)
Abnormally small eyeball	Often (30–79%)
Absent/small iris	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Cornea of eye less than 10mm in diameter	Often (30–79%)
Hardening of skin and connective tissue	Often (30–79%)
Optic atrophy	Often (30–79%)
Wide-set eyes	Often (30–79%)
Absence of eyeballs	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Polycystic kidney dysplasia	Always
Multicystic kidney dysplasia	Very often (80–99%)
Absent uterus	Often (30–79%)
Ambiguous external genitalia	Often (30–79%)
Undescended testes	Often (30–79%)
Double ureter	Sometimes (5–29%)
Male pseudohermaphroditism	Sometimes (5–29%)
True hermaphroditism	Sometimes (5–29%)
Urethral atresia	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Bowing of the long bones	Always
Extra little finger	Always
Extra toe attached near the little toe	Always
Postaxial polydactyly	Often (30–79%)
Talipes	Often (30–79%)
Extra thumb	Sometimes (5–29%)
Webbed fingers or toes	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Single ventricle	Always
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Absent spleen	Sometimes (5–29%)
Accessory spleen	Sometimes (5–29%)
All organs on wrong side of body	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Tricuspid regurgitation	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal bloating	Always
Excessive buildup of connective tissue and scarring of liver at birth	Very often (80–99%)
Belly sticks out	Sometimes (5–29%)
Cystic liver disease	Sometimes (5–29%)
Hepatic fibrosis	Sometimes (5–29%)
Pancreatic cysts	Sometimes (5–29%)
Pancreatic fibrosis	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Holoprosencephaly	Always
Lobar holoprosencephaly	Often (30–79%)
Anencephaly	Sometimes (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Cardiorespiratory arrest	Sometimes (5–29%)
Collapsed lung	Sometimes (5–29%)
Poorly developed lungs	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Low-set ears	Often (30–79%)

Abnormality of prenatal development or birth

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

Abnormality of the integument

Trait	How often it is seen
Blue discoloration of the skin	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 TXNDC15 and how often each is seen. Find out more at hpo.jax.org.

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