Traits

Traits linked to TM2D3

TM2 domain containing 3

The Human Phenotype Ontology links 86 traits to TM2D3, 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
Abnormal cortical gyration	Always
Absent speech development	Always
Aggressive behavior	Always
Cerebellar vermis hypoplasia	Always
Delayed ability to walk	Always
Delayed speech and language development	Always
Difficulty staying asleep	Always
Episodic hemiplegia	Always
Fluid-filled cyst in spinal cord	Always
Inability to coordinate movements when walking	Always
Irritability	Always
Pauses in breathing while sleeping	Always
Repetitive movements	Always
Seizure affecting one half of brain	Always
Self-injurious behavior	Always
Severe global developmental delay	Always
Tearfulness	Always
Teeth grinding	Always
Thick corpus callosum	Always
Underdeveloped frontal lobe	Always
Wide based walk	Always
Agitation	Often (30–79%)
Anxiety	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Dystonia	Often (30–79%)
Epilepsy	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Asymmetry of the posterior head	Always
Beaked nose	Always
Chronic rhinitis	Always
Decreased size of tooth	Always
Decreased volume of lip	Always
Delayed eruption of baby teeth	Always
Development of small head that was not present at birth	Always
Downward slanting of the opening between the eyelids	Always
Facial asymmetry	Always
Flat face	Always
Little lower jaw	Always
Narrow mouth	Always
Narrow nose	Always
Pointed chin	Always
Progressively abnormally small cranium	Always
Sparse eyebrow	Always
Thin red part of the upper lip	Always

Abnormality of limbs

Trait	How often it is seen
3-4 finger cutaneous syndactyly	Always
Increased muscle tone of arm or leg	Always
Single transverse palmar crease	Always
Supernumerary finger flexion crease	Always
Webbed 2nd and 3rd toes	Always
Webbed skin of 2nd-3rd toes	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Always
Slow heartbeats	Always
Patent foramen ovale	Often (30–79%)
Bilateral superior vena cava	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Horner syndrome	Always
Optic disc drusen	Always
Cross-eyed	Often (30–79%)
Farsightedness	Often (30–79%)
Blindness	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Bilateral cryptorchidism	Always
Smaller than typical growth of scrotum	Always
Horseshoe kidney	Often (30–79%)
Dilatation of renal calices	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Dry hair	Always
Dry skin	Always
Hair loss	Always
Spinal dimple	Always

Abnormality of the immune system

Trait	How often it is seen
Asthma	Always
Bronchitis	Always
Recurrent pneumonia	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Always
Scoliosis	Always
Spasticity and rigidity of muscles	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Always
Less than 10 fetal movements in 12 hours	Always

Abnormality of the digestive system

Trait	How often it is seen
Chronic constipation	Always
Feeding difficulties	Always

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Always
Low-set ears	Always

Abnormality of the respiratory system

Trait	How often it is seen
Increased respiratory rate or depth of breathing	Always
Softening of voice box tissue	Always

Growth abnormality

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

Abnormality of the endocrine system

Trait	How often it is seen
Pineal cyst	Always

Constitutional symptom

Trait	How often it is seen
Pain	Always

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 TM2D3 and how often each is seen. Find out more at hpo.jax.org.

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