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

Abnormality of head or neck

Trait	Hvor ofte det ses
Development of small head that was not present at birth	Altid
Abnormally small head	Ofte (30–79 %)
Widely spaced teeth	Ofte (30–79 %)
Asymmetry of the posterior head	Nogle gange (5–29 %)
Frontal bossing	Nogle gange (5–29 %)
Little lower jaw	Nogle gange (5–29 %)
Low hanging columella	Nogle gange (5–29 %)
Monobrow	Nogle gange (5–29 %)
Narrow forehead	Nogle gange (5–29 %)
Small head present at birth	Nogle gange (5–29 %)
Sparse eyebrow	Nogle gange (5–29 %)
Tongue twitching	Nogle gange (5–29 %)
Upward slanting of the opening between the eyelids	Nogle gange (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Lower limb spasticity	Altid
Muscle weakness	Altid
Involuntary muscle stiffness, contraction, or spasm	Meget ofte (80–99 %)
Muscle degeneration	Meget ofte (80–99 %)
Scoliosis	Meget ofte (80–99 %)
Uncontrollable movement in upper arms	Meget ofte (80–99 %)
Decreased muscle tone in infant	Ofte (30–79 %)
Low muscle tone	Ofte (30–79 %)
Progressive spasticity	Ofte (30–79 %)
Arthrogryposis multiplex congenita	Nogle gange (5–29 %)
Recurrent long bone fractures	Nogle gange (5–29 %)
Funnel chest	Sjældent (1–4%)
Pigeon chest	Sjældent (1–4%)

Abnormality of the eye

Trait	Hvor ofte det ses
Absent smooth pursuit	Altid
Optic atrophy	Ofte (30–79 %)
Cross-eyed	Nogle gange (5–29 %)
Deeply set eye	Nogle gange (5–29 %)
Involuntary, rapid, rhythmic eye movements	Nogle gange (5–29 %)
Wide-set eyes	Nogle gange (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Constipation	Ofte (30–79 %)
Feeding difficulties	Ofte (30–79 %)
Chronic constipation	Nogle gange (5–29 %)
Loss of bowel control	Nogle gange (5–29 %)
Poor swallowing	Nogle gange (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Retractile testis	Ofte (30–79 %)
Loss of bladder control	Nogle gange (5–29 %)
Lack of bladder control due to nervous system injury	Sjældent (1–4%)

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Respiratory failure	Ofte (30–79 %)
Respiratory function loss	Ofte (30–79 %)
Respiratory failure requiring assisted ventilation	Nogle gange (5–29 %)

Abnormality of limbs

Trait	Hvor ofte det ses
Dislocated hip since birth	Sjældent (1–4%)

Abnormality of prenatal development or birth

Trait	Hvor ofte det ses
High levels of amniotic fluid	Nogle gange (5–29 %)

Abnormality of the ear

Trait	Hvor ofte det ses
Large ears	Sjældent (1–4%)

Abnormality of the immune system

Trait	Hvor ofte det ses
Recurrent pneumonia	Sjældent (1–4%)

Abnormality of the integument

Trait	Hvor ofte det ses
Excessive hairiness	Sjældent (1–4%)

Growth abnormality

Trait	Hvor ofte det ses
Growth delay	Meget ofte (80–99 %)

Laboratory abnormality

Trait	Hvor ofte det ses
Elevated blood creatine phosphokinase	Ofte (30–79 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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