Traits

Traits linked to TBCD

tubulin folding cofactor D

The Human Phenotype Ontology links 84 traits to TBCD, 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 speech and language development	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Brisk reflexes	Foarte des (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Foarte des (80–99%)
Epilepsy	Foarte des (80–99%)
Underdevelopment of part of brain called corpus callosum	Foarte des (80–99%)
Absent speech development	Des (30–79%)
Ataxia	Des (30–79%)
Cerebral hypomyelination	Des (30–79%)
Degeneration of cerebellum	Des (30–79%)
Generalized tonic seizure	Des (30–79%)
Grand mal seizures	Des (30–79%)
Inability to walk	Des (30–79%)
IQ less than 20	Des (30–79%)
Loss of developmental milestones	Des (30–79%)
Paralysis of all four limbs	Des (30–79%)
Poor speech	Des (30–79%)
Absent reflexes	Uneori (5–29%)
Atrophy/Degeneration affecting the brainstem	Uneori (5–29%)
Cataplexy	Uneori (5–29%)
CNS hypomyelination	Uneori (5–29%)
Epileptic spasm	Uneori (5–29%)
IQ between 34 and 49	Uneori (5–29%)
Muscle twitch	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
Dystonia	Rar (1–4%)
Febrile seizure (within the age range of 3 months to 6 years)	Rar (1–4%)
Motor axonal neuropathy	Rar (1–4%)
Repetitive movements	Rar (1–4%)
Diffuse cerebral atrophy	Neînregistrat
Encephalopathy	Neînregistrat
Gliosis	Neînregistrat
Loss of brain cells	Neînregistrat

Abnormality of head or neck

Trait	Cât de frecvent apare
Development of small head that was not present at birth	Întotdeauna
Abnormally small head	Des (30–79%)
Widely spaced teeth	Des (30–79%)
Asymmetry of the posterior head	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Low hanging columella	Uneori (5–29%)
Monobrow	Uneori (5–29%)
Narrow forehead	Uneori (5–29%)
Small head present at birth	Uneori (5–29%)
Sparse eyebrow	Uneori (5–29%)
Tongue twitching	Uneori (5–29%)
Upward slanting of the opening between the eyelids	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Lower limb spasticity	Întotdeauna
Muscle weakness	Întotdeauna
Involuntary muscle stiffness, contraction, or spasm	Foarte des (80–99%)
Muscle degeneration	Foarte des (80–99%)
Scoliosis	Foarte des (80–99%)
Uncontrollable movement in upper arms	Foarte des (80–99%)
Decreased muscle tone in infant	Des (30–79%)
Low muscle tone	Des (30–79%)
Progressive spasticity	Des (30–79%)
Arthrogryposis multiplex congenita	Uneori (5–29%)
Recurrent long bone fractures	Uneori (5–29%)
Funnel chest	Rar (1–4%)
Pigeon chest	Rar (1–4%)

Abnormality of the eye

Trait	Cât de frecvent apare
Absent smooth pursuit	Întotdeauna
Optic atrophy	Des (30–79%)
Cross-eyed	Uneori (5–29%)
Deeply set eye	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Constipation	Des (30–79%)
Feeding difficulties	Des (30–79%)
Chronic constipation	Uneori (5–29%)
Loss of bowel control	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Retractile testis	Des (30–79%)
Loss of bladder control	Uneori (5–29%)
Lack of bladder control due to nervous system injury	Rar (1–4%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Respiratory failure	Des (30–79%)
Respiratory function loss	Des (30–79%)
Respiratory failure requiring assisted ventilation	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Dislocated hip since birth	Rar (1–4%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
High levels of amniotic fluid	Uneori (5–29%)

Abnormality of the ear

Trait	Cât de frecvent apare
Large ears	Rar (1–4%)

Abnormality of the immune system

Trait	Cât de frecvent apare
Recurrent pneumonia	Rar (1–4%)

Abnormality of the integument

Trait	Cât de frecvent apare
Excessive hairiness	Rar (1–4%)

Growth abnormality

Trait	Cât de frecvent apare
Growth delay	Foarte des (80–99%)

Laboratory abnormality

Trait	Cât de frecvent apare
Elevated blood creatine phosphokinase	Des (30–79%)

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

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