Traits

Traits linked to TCTN2

tectonic family member 2

The Human Phenotype Ontology links 98 traits to TCTN2, by body system: features seen in people with one of the gene's rare conditions.

TCTN2

Abnormality of head or neck

Trait	How often it is seen
Encephalocele	Always
Abnormally small head	Very often (80–99%)
Brain tissue sticks out through back of skull	Often (30–79%)
Cleft palate	Often (30–79%)
Decreased width of the skull	Often (30–79%)
Flat nose	Often (30–79%)
Full cheeks	Often (30–79%)
Little lower jaw	Often (30–79%)
Long face	Often (30–79%)
Sloping forehead	Often (30–79%)
Aplasia/Hypoplasia of the tongue	Sometimes (5–29%)
Broad forehead	Sometimes (5–29%)
Cleft of the mouth	Sometimes (5–29%)
Cleft upper lip	Sometimes (5–29%)
Dandy-Walker malformation	Sometimes (5–29%)
Grooved tongue	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Short neck	Sometimes (5–29%)
Short nose	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Always
Ataxia	Always
Fewer and broader ridges in brain	Always
Global developmental delay	Always
Increased reflexes	Always
More grooves in brain	Always
Small cerebellum	Always
Cerebellar vermis hypoplasia	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Lobar holoprosencephaly	Often (30–79%)
Abnormality of neuronal migration	Sometimes (5–29%)
Anencephaly	Sometimes (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Absent speech development	Not recorded
Lack of coordination of movement	Not recorded

Abnormality of the eye

Trait	How often it is seen
Farsightedness	Always
Involuntary, rapid, rhythmic eye movements	Always
Oculomotor apraxia	Very often (80–99%)
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%)
Cat eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Multicystic kidney dysplasia	Very often (80–99%)
Ambiguous external genitalia	Often (30–79%)
Polycystic kidney dysplasia	Often (30–79%)
Undescended testes	Often (30–79%)
Double ureter	Sometimes (5–29%)
Enlarged kidney	Sometimes (5–29%)
Hyperechogenic kidneys	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
Extra little finger	Always
Extra toe attached near the little toe	Always
More than five fingers or toes on hands or feet	Always
Talipes	Often (30–79%)
Bowing of the long bones	Sometimes (5–29%)
Club feet	Sometimes (5–29%)
Duplication of bones of the toes	Sometimes (5–29%)
Extra finger	Sometimes (5–29%)
Extra thumb	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Excessive buildup of connective tissue and scarring of liver at birth	Very often (80–99%)
Abdominal bloating	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)
Cystic liver disease	Sometimes (5–29%)
Enlarged colon lacking nerve cells	Sometimes (5–29%)
Pancreatic cysts	Sometimes (5–29%)
Pancreatic fibrosis	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
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%)
Fluid around heart	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Always
Low muscle tone	Always
Abnormal vertebral body morphology	Sometimes (5–29%)
Narrow chest	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormal pattern of respiration	Very often (80–99%)
Apnea	Very often (80–99%)
Episodic tachypnea	Very often (80–99%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Often (30–79%)
Anhydramnios	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	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Abnormality of the hypothalamus-pituitary axis	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 TCTN2 and how often each is seen. Find out more at hpo.jax.org.

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