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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

TraitHur ofta den förekommer
Delayed speech and language developmentAlltid
Global developmental delayAlltid
Intellectual disabilityAlltid
Brisk reflexesMycket ofta (80–99 %)
Decrease in size of the outer layer of the brain due to loss of brain cellsMycket ofta (80–99 %)
EpilepsyMycket ofta (80–99 %)
Underdevelopment of part of brain called corpus callosumMycket ofta (80–99 %)
Absent speech developmentOfta (30–79 %)
AtaxiaOfta (30–79 %)
Cerebral hypomyelinationOfta (30–79 %)
Degeneration of cerebellumOfta (30–79 %)
Generalized tonic seizureOfta (30–79 %)
Grand mal seizuresOfta (30–79 %)
Inability to walkOfta (30–79 %)
IQ less than 20Ofta (30–79 %)
Loss of developmental milestonesOfta (30–79 %)
Paralysis of all four limbsOfta (30–79 %)
Poor speechOfta (30–79 %)
Absent reflexesIbland (5–29 %)
Atrophy/Degeneration affecting the brainstemIbland (5–29 %)
CataplexyIbland (5–29 %)
CNS hypomyelinationIbland (5–29 %)
Epileptic spasmIbland (5–29 %)
IQ between 34 and 49Ibland (5–29 %)
Muscle twitchIbland (5–29 %)
VentriculomegalyIbland (5–29 %)
DystoniaSällan (1–4%)
Febrile seizure (within the age range of 3 months to 6 years)Sällan (1–4%)
Motor axonal neuropathySällan (1–4%)
Repetitive movementsSällan (1–4%)
Diffuse cerebral atrophyInte registrerat
EncephalopathyInte registrerat
GliosisInte registrerat
Loss of brain cellsInte registrerat

Abnormality of head or neck

TraitHur ofta den förekommer
Development of small head that was not present at birthAlltid
Abnormally small headOfta (30–79 %)
Widely spaced teethOfta (30–79 %)
Asymmetry of the posterior headIbland (5–29 %)
Frontal bossingIbland (5–29 %)
Little lower jawIbland (5–29 %)
Low hanging columellaIbland (5–29 %)
MonobrowIbland (5–29 %)
Narrow foreheadIbland (5–29 %)
Small head present at birthIbland (5–29 %)
Sparse eyebrowIbland (5–29 %)
Tongue twitchingIbland (5–29 %)
Upward slanting of the opening between the eyelidsIbland (5–29 %)

Abnormality of the musculoskeletal system

TraitHur ofta den förekommer
Lower limb spasticityAlltid
Muscle weaknessAlltid
Involuntary muscle stiffness, contraction, or spasmMycket ofta (80–99 %)
Muscle degenerationMycket ofta (80–99 %)
ScoliosisMycket ofta (80–99 %)
Uncontrollable movement in upper armsMycket ofta (80–99 %)
Decreased muscle tone in infantOfta (30–79 %)
Low muscle toneOfta (30–79 %)
Progressive spasticityOfta (30–79 %)
Arthrogryposis multiplex congenitaIbland (5–29 %)
Recurrent long bone fracturesIbland (5–29 %)
Funnel chestSällan (1–4%)
Pigeon chestSällan (1–4%)

Abnormality of the eye

TraitHur ofta den förekommer
Absent smooth pursuitAlltid
Optic atrophyOfta (30–79 %)
Cross-eyedIbland (5–29 %)
Deeply set eyeIbland (5–29 %)
Involuntary, rapid, rhythmic eye movementsIbland (5–29 %)
Wide-set eyesIbland (5–29 %)

Abnormality of the digestive system

TraitHur ofta den förekommer
ConstipationOfta (30–79 %)
Feeding difficultiesOfta (30–79 %)
Chronic constipationIbland (5–29 %)
Loss of bowel controlIbland (5–29 %)
Poor swallowingIbland (5–29 %)

Abnormality of the genitourinary system

TraitHur ofta den förekommer
Retractile testisOfta (30–79 %)
Loss of bladder controlIbland (5–29 %)
Lack of bladder control due to nervous system injurySällan (1–4%)

Abnormality of the respiratory system

TraitHur ofta den förekommer
Respiratory failureOfta (30–79 %)
Respiratory function lossOfta (30–79 %)
Respiratory failure requiring assisted ventilationIbland (5–29 %)

Abnormality of limbs

TraitHur ofta den förekommer
Dislocated hip since birthSällan (1–4%)

Abnormality of prenatal development or birth

TraitHur ofta den förekommer
High levels of amniotic fluidIbland (5–29 %)

Abnormality of the ear

TraitHur ofta den förekommer
Large earsSällan (1–4%)

Abnormality of the immune system

TraitHur ofta den förekommer
Recurrent pneumoniaSällan (1–4%)

Abnormality of the integument

TraitHur ofta den förekommer
Excessive hairinessSällan (1–4%)

Growth abnormality

TraitHur ofta den förekommer
Growth delayMycket ofta (80–99 %)

Laboratory abnormality

TraitHur ofta den förekommer
Elevated blood creatine phosphokinaseOfta (30–79 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

  • 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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