Gå til indhold
Brug dine HSA- eller FSA-midler

Traits

Traits linked to ACBD6

acyl-CoA binding domain containing 6

The Human Phenotype Ontology links 78 traits to ACBD6, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

TraitHvor ofte det ses
Agenesis of corpus callosumAltid
Cerebellar vermis hypoplasiaAltid
Delayed speech and language developmentAltid
Difficulty sleepingAltid
EpilepsyAltid
Global developmental delayAltid
AtaxiaMeget ofte (80–99 %)
Delayed ability to walkMeget ofte (80–99 %)
Stooped postureMeget ofte (80–99 %)
Aggressive behaviorOfte (30–79 %)
Autism spectrum disorderOfte (30–79 %)
Balance impairmentOfte (30–79 %)
DystoniaOfte (30–79 %)
Frequent temper tantrumsOfte (30–79 %)
ParkinsonismOfte (30–79 %)
Tic disorderOfte (30–79 %)
TremorOfte (30–79 %)
Absent speech developmentNogle gange (5–29 %)
Agenesis of the anterior commissureNogle gange (5–29 %)
Generalized myoclonic seizureNogle gange (5–29 %)
Grand mal seizuresNogle gange (5–29 %)
Inferior cerebellar vermis hypoplasiaNogle gange (5–29 %)
Partial agenesis of the corpus callosumNogle gange (5–29 %)
Seizure affecting one half of brainNogle gange (5–29 %)
Self-injurious behaviorNogle gange (5–29 %)
Underdevelopment of part of brain called corpus callosumNogle gange (5–29 %)
VentriculomegalyNogle gange (5–29 %)
Brain degenerationSjældent (1–4%)
ColpocephalySjældent (1–4%)
Degeneration of cerebellumSjældent (1–4%)
Increased appetiteSjældent (1–4%)
Infantile spasmsSjældent (1–4%)
Obstructive sleep apneaSjældent (1–4%)
Sudden loss of muscle toneSjældent (1–4%)
Too much cerebrospinal fluid in the brainSjældent (1–4%)

Abnormality of head or neck

TraitHvor ofte det ses
Coarse facial featuresOfte (30–79 %)
Depressed nasal bridgeOfte (30–79 %)
Drooping lower lipOfte (30–79 %)
Thin red part of the upper lipOfte (30–79 %)
Upward slanting of the opening between the eyelidsOfte (30–79 %)
Wide noseOfte (30–79 %)
Big lower jawNogle gange (5–29 %)
Corners of eye widely separatedNogle gange (5–29 %)
Cleft palateSjældent (1–4%)
Eye foldsSjældent (1–4%)
Highly arched eyebrowSjældent (1–4%)
Increased thickness of skull capSjældent (1–4%)
Long faceSjældent (1–4%)
Recurrent coldsSjældent (1–4%)
Short philtrumSjældent (1–4%)

Abnormality of the eye

TraitHvor ofte det ses
Deeply set eyeOfte (30–79 %)
Upgaze palsyOfte (30–79 %)
Severe near sightednessNogle gange (5–29 %)
Cross-eyedSjældent (1–4%)
Difficulties with night visionSjældent (1–4%)
FarsightednessSjældent (1–4%)
Involuntary, rapid, rhythmic eye movementsSjældent (1–4%)
Visual impairmentSjældent (1–4%)

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Involuntary muscle stiffness, contraction, or spasmOfte (30–79 %)
Lower limb spasticityOfte (30–79 %)
Uncontrollable movement in upper armsOfte (30–79 %)
ScoliosisNogle gange (5–29 %)
Double-JointedSjældent (1–4%)
Hunched backSjældent (1–4%)
Low muscle toneSjældent (1–4%)

Abnormality of the genitourinary system

TraitHvor ofte det ses
Loss of bladder controlOfte (30–79 %)
HypospadiasSjældent (1–4%)
Renal failureSjældent (1–4%)
Undescended testesSjældent (1–4%)

Abnormality of limbs

TraitHvor ofte det ses
Club feetSjældent (1–4%)
Small handSjældent (1–4%)
Tapered fingerSjældent (1–4%)

Laboratory abnormality

TraitHvor ofte det ses
Diabetes mellitusSjældent (1–4%)
Fluid retentionSjældent (1–4%)

Abnormality of blood and blood-forming tissues

TraitHvor ofte det ses
Low blood cell countSjældent (1–4%)

Abnormality of the cardiovascular system

TraitHvor ofte det ses
High blood pressureSjældent (1–4%)

Abnormality of the digestive system

TraitHvor ofte det ses
Scar tissue replaces healthy tissue in the liverSjældent (1–4%)

Growth abnormality

TraitHvor ofte det ses
ObesityNogle gange (5–29 %)

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 ACBD6 and how often each is seen. Find out more at hpo.jax.org.

Én test. Svar for hele livet.

Fra 449 $Gratis forsendelse · Resultater på 6–8 uger

Bestil min Genome Test