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	Frequenza di osservazione
Delayed speech and language development	Sempre
Global developmental delay	Sempre
Intellectual disability	Sempre
Brisk reflexes	Molto spesso (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Molto spesso (80–99%)
Epilepsy	Molto spesso (80–99%)
Underdevelopment of part of brain called corpus callosum	Molto spesso (80–99%)
Absent speech development	Spesso (30–79%)
Ataxia	Spesso (30–79%)
Cerebral hypomyelination	Spesso (30–79%)
Degeneration of cerebellum	Spesso (30–79%)
Generalized tonic seizure	Spesso (30–79%)
Grand mal seizures	Spesso (30–79%)
Inability to walk	Spesso (30–79%)
IQ less than 20	Spesso (30–79%)
Loss of developmental milestones	Spesso (30–79%)
Paralysis of all four limbs	Spesso (30–79%)
Poor speech	Spesso (30–79%)
Absent reflexes	A volte (5–29%)
Atrophy/Degeneration affecting the brainstem	A volte (5–29%)
Cataplexy	A volte (5–29%)
CNS hypomyelination	A volte (5–29%)
Epileptic spasm	A volte (5–29%)
IQ between 34 and 49	A volte (5–29%)
Muscle twitch	A volte (5–29%)
Ventriculomegaly	A volte (5–29%)
Dystonia	Raramente (1–4%)
Febrile seizure (within the age range of 3 months to 6 years)	Raramente (1–4%)
Motor axonal neuropathy	Raramente (1–4%)
Repetitive movements	Raramente (1–4%)
Diffuse cerebral atrophy	Non registrato
Encephalopathy	Non registrato
Gliosis	Non registrato
Loss of brain cells	Non registrato

Abnormality of head or neck

Trait	Frequenza di osservazione
Development of small head that was not present at birth	Sempre
Abnormally small head	Spesso (30–79%)
Widely spaced teeth	Spesso (30–79%)
Asymmetry of the posterior head	A volte (5–29%)
Frontal bossing	A volte (5–29%)
Little lower jaw	A volte (5–29%)
Low hanging columella	A volte (5–29%)
Monobrow	A volte (5–29%)
Narrow forehead	A volte (5–29%)
Small head present at birth	A volte (5–29%)
Sparse eyebrow	A volte (5–29%)
Tongue twitching	A volte (5–29%)
Upward slanting of the opening between the eyelids	A volte (5–29%)

Abnormality of the musculoskeletal system

Trait	Frequenza di osservazione
Lower limb spasticity	Sempre
Muscle weakness	Sempre
Involuntary muscle stiffness, contraction, or spasm	Molto spesso (80–99%)
Muscle degeneration	Molto spesso (80–99%)
Scoliosis	Molto spesso (80–99%)
Uncontrollable movement in upper arms	Molto spesso (80–99%)
Decreased muscle tone in infant	Spesso (30–79%)
Low muscle tone	Spesso (30–79%)
Progressive spasticity	Spesso (30–79%)
Arthrogryposis multiplex congenita	A volte (5–29%)
Recurrent long bone fractures	A volte (5–29%)
Funnel chest	Raramente (1–4%)
Pigeon chest	Raramente (1–4%)

Abnormality of the eye

Trait	Frequenza di osservazione
Absent smooth pursuit	Sempre
Optic atrophy	Spesso (30–79%)
Cross-eyed	A volte (5–29%)
Deeply set eye	A volte (5–29%)
Involuntary, rapid, rhythmic eye movements	A volte (5–29%)
Wide-set eyes	A volte (5–29%)

Abnormality of the digestive system

Trait	Frequenza di osservazione
Constipation	Spesso (30–79%)
Feeding difficulties	Spesso (30–79%)
Chronic constipation	A volte (5–29%)
Loss of bowel control	A volte (5–29%)
Poor swallowing	A volte (5–29%)

Abnormality of the genitourinary system

Trait	Frequenza di osservazione
Retractile testis	Spesso (30–79%)
Loss of bladder control	A volte (5–29%)
Lack of bladder control due to nervous system injury	Raramente (1–4%)

Abnormality of the respiratory system

Trait	Frequenza di osservazione
Respiratory failure	Spesso (30–79%)
Respiratory function loss	Spesso (30–79%)
Respiratory failure requiring assisted ventilation	A volte (5–29%)

Abnormality of limbs

Trait	Frequenza di osservazione
Dislocated hip since birth	Raramente (1–4%)

Abnormality of prenatal development or birth

Trait	Frequenza di osservazione
High levels of amniotic fluid	A volte (5–29%)

Abnormality of the ear

Trait	Frequenza di osservazione
Large ears	Raramente (1–4%)

Abnormality of the immune system

Trait	Frequenza di osservazione
Recurrent pneumonia	Raramente (1–4%)

Abnormality of the integument

Trait	Frequenza di osservazione
Excessive hairiness	Raramente (1–4%)

Growth abnormality

Trait	Frequenza di osservazione
Growth delay	Molto spesso (80–99%)

Laboratory abnormality

Trait	Frequenza di osservazione
Elevated blood creatine phosphokinase	Spesso (30–79%)

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

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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