Traits

Traits linked to TMTC3

transmembrane O-mannosyltransferase targeting cadherins 3

The Human Phenotype Ontology links 51 traits to TMTC3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Cât de frecvent apare
Delayed fine motor development	Întotdeauna
Delayed motor skills	Întotdeauna
Delayed social development	Întotdeauna
Delayed speech and language development	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Abnormal cerebral white matter morphology	Des (30–79%)
Abnormal myelination	Des (30–79%)
Abnormal shape of nervous system	Des (30–79%)
Agyria	Des (30–79%)
Autism spectrum disorder	Des (30–79%)
Dysgyria	Des (30–79%)
Epilepsy	Des (30–79%)
Gray matter heterotopia	Des (30–79%)
Periventricular heterotopia	Des (30–79%)
Seizure affecting one half of brain	Des (30–79%)
Severe global developmental delay	Des (30–79%)
Small brainstem	Des (30–79%)
Small cerebellum	Des (30–79%)
Too much cerebrospinal fluid in the brain	Des (30–79%)
Type II lissencephaly	Des (30–79%)
Underdevelopment of part of brain called corpus callosum	Des (30–79%)
Ventriculomegaly	Des (30–79%)
Absent speech development	Uneori (5–29%)
Cerebral hypomyelination	Uneori (5–29%)
More grooves in brain	Uneori (5–29%)
Retrocerebellar cyst	Uneori (5–29%)
Delayed ability to walk	Neînregistrat

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Appendicular spasticity	Întotdeauna
Low muscle tone in trunk	Întotdeauna
Hernia	Foarte des (80–99%)
Scoliosis	Foarte des (80–99%)
Double-Jointed	Des (30–79%)
Shoulder dislocation	Uneori (5–29%)
EMG abnormality	Neînregistrat

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Abnormal heart valve morphology	Des (30–79%)
Aortic regurgitation	Des (30–79%)
Patent ductus arteriosus	Des (30–79%)
Bulge in wall of large artery that carries blood away from heart	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Optic atrophy	Des (30–79%)
Abnormally small eyeball	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Brain tissue sticks out through back of skull	Des (30–79%)
Abnormally small head	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Club feet	Des (30–79%)
Dislocated kneecap	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Acid reflux	Foarte des (80–99%)
Pyloric stenosis	Foarte des (80–99%)

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Bleeding tendency	Foarte des (80–99%)

Abnormality of the integument

Trait	Cât de frecvent apare
Thin skin	Des (30–79%)

Laboratory abnormality

Trait	Cât de frecvent apare
Elevated blood creatine phosphokinase	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

The Human Phenotype Ontology, release 2026-09-01: the traits linked to TMTC3 and how often each is seen. Find out more at hpo.jax.org.

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