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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

TraitCât de frecvent apare
Agenesis of corpus callosumÎntotdeauna
Cerebellar vermis hypoplasiaÎntotdeauna
Delayed speech and language developmentÎntotdeauna
Difficulty sleepingÎntotdeauna
EpilepsyÎntotdeauna
Global developmental delayÎntotdeauna
AtaxiaFoarte des (80–99%)
Delayed ability to walkFoarte des (80–99%)
Stooped postureFoarte des (80–99%)
Aggressive behaviorDes (30–79%)
Autism spectrum disorderDes (30–79%)
Balance impairmentDes (30–79%)
DystoniaDes (30–79%)
Frequent temper tantrumsDes (30–79%)
ParkinsonismDes (30–79%)
Tic disorderDes (30–79%)
TremorDes (30–79%)
Absent speech developmentUneori (5–29%)
Agenesis of the anterior commissureUneori (5–29%)
Generalized myoclonic seizureUneori (5–29%)
Grand mal seizuresUneori (5–29%)
Inferior cerebellar vermis hypoplasiaUneori (5–29%)
Partial agenesis of the corpus callosumUneori (5–29%)
Seizure affecting one half of brainUneori (5–29%)
Self-injurious behaviorUneori (5–29%)
Underdevelopment of part of brain called corpus callosumUneori (5–29%)
VentriculomegalyUneori (5–29%)
Brain degenerationRar (1–4%)
ColpocephalyRar (1–4%)
Degeneration of cerebellumRar (1–4%)
Increased appetiteRar (1–4%)
Infantile spasmsRar (1–4%)
Obstructive sleep apneaRar (1–4%)
Sudden loss of muscle toneRar (1–4%)
Too much cerebrospinal fluid in the brainRar (1–4%)

Abnormality of head or neck

TraitCât de frecvent apare
Coarse facial featuresDes (30–79%)
Depressed nasal bridgeDes (30–79%)
Drooping lower lipDes (30–79%)
Thin red part of the upper lipDes (30–79%)
Upward slanting of the opening between the eyelidsDes (30–79%)
Wide noseDes (30–79%)
Big lower jawUneori (5–29%)
Corners of eye widely separatedUneori (5–29%)
Cleft palateRar (1–4%)
Eye foldsRar (1–4%)
Highly arched eyebrowRar (1–4%)
Increased thickness of skull capRar (1–4%)
Long faceRar (1–4%)
Recurrent coldsRar (1–4%)
Short philtrumRar (1–4%)

Abnormality of the eye

TraitCât de frecvent apare
Deeply set eyeDes (30–79%)
Upgaze palsyDes (30–79%)
Severe near sightednessUneori (5–29%)
Cross-eyedRar (1–4%)
Difficulties with night visionRar (1–4%)
FarsightednessRar (1–4%)
Involuntary, rapid, rhythmic eye movementsRar (1–4%)
Visual impairmentRar (1–4%)

Abnormality of the musculoskeletal system

TraitCât de frecvent apare
Involuntary muscle stiffness, contraction, or spasmDes (30–79%)
Lower limb spasticityDes (30–79%)
Uncontrollable movement in upper armsDes (30–79%)
ScoliosisUneori (5–29%)
Double-JointedRar (1–4%)
Hunched backRar (1–4%)
Low muscle toneRar (1–4%)

Abnormality of the genitourinary system

TraitCât de frecvent apare
Loss of bladder controlDes (30–79%)
HypospadiasRar (1–4%)
Renal failureRar (1–4%)
Undescended testesRar (1–4%)

Abnormality of limbs

TraitCât de frecvent apare
Club feetRar (1–4%)
Small handRar (1–4%)
Tapered fingerRar (1–4%)

Laboratory abnormality

TraitCât de frecvent apare
Diabetes mellitusRar (1–4%)
Fluid retentionRar (1–4%)

Abnormality of blood and blood-forming tissues

TraitCât de frecvent apare
Low blood cell countRar (1–4%)

Abnormality of the cardiovascular system

TraitCât de frecvent apare
High blood pressureRar (1–4%)

Abnormality of the digestive system

TraitCât de frecvent apare
Scar tissue replaces healthy tissue in the liverRar (1–4%)

Growth abnormality

TraitCât de frecvent apare
ObesityUneori (5–29%)

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

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