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

Trait	Frequenza di osservazione
Agenesis of corpus callosum	Sempre
Cerebellar vermis hypoplasia	Sempre
Delayed speech and language development	Sempre
Difficulty sleeping	Sempre
Epilepsy	Sempre
Global developmental delay	Sempre
Ataxia	Molto spesso (80–99%)
Delayed ability to walk	Molto spesso (80–99%)
Stooped posture	Molto spesso (80–99%)
Aggressive behavior	Spesso (30–79%)
Autism spectrum disorder	Spesso (30–79%)
Balance impairment	Spesso (30–79%)
Dystonia	Spesso (30–79%)
Frequent temper tantrums	Spesso (30–79%)
Parkinsonism	Spesso (30–79%)
Tic disorder	Spesso (30–79%)
Tremor	Spesso (30–79%)
Absent speech development	A volte (5–29%)
Agenesis of the anterior commissure	A volte (5–29%)
Generalized myoclonic seizure	A volte (5–29%)
Grand mal seizures	A volte (5–29%)
Inferior cerebellar vermis hypoplasia	A volte (5–29%)
Partial agenesis of the corpus callosum	A volte (5–29%)
Seizure affecting one half of brain	A volte (5–29%)
Self-injurious behavior	A volte (5–29%)
Underdevelopment of part of brain called corpus callosum	A volte (5–29%)
Ventriculomegaly	A volte (5–29%)
Brain degeneration	Raramente (1–4%)
Colpocephaly	Raramente (1–4%)
Degeneration of cerebellum	Raramente (1–4%)
Increased appetite	Raramente (1–4%)
Infantile spasms	Raramente (1–4%)
Obstructive sleep apnea	Raramente (1–4%)
Sudden loss of muscle tone	Raramente (1–4%)
Too much cerebrospinal fluid in the brain	Raramente (1–4%)

Abnormality of head or neck

Trait	Frequenza di osservazione
Coarse facial features	Spesso (30–79%)
Depressed nasal bridge	Spesso (30–79%)
Drooping lower lip	Spesso (30–79%)
Thin red part of the upper lip	Spesso (30–79%)
Upward slanting of the opening between the eyelids	Spesso (30–79%)
Wide nose	Spesso (30–79%)
Big lower jaw	A volte (5–29%)
Corners of eye widely separated	A volte (5–29%)
Cleft palate	Raramente (1–4%)
Eye folds	Raramente (1–4%)
Highly arched eyebrow	Raramente (1–4%)
Increased thickness of skull cap	Raramente (1–4%)
Long face	Raramente (1–4%)
Recurrent colds	Raramente (1–4%)
Short philtrum	Raramente (1–4%)

Abnormality of the eye

Trait	Frequenza di osservazione
Deeply set eye	Spesso (30–79%)
Upgaze palsy	Spesso (30–79%)
Severe near sightedness	A volte (5–29%)
Cross-eyed	Raramente (1–4%)
Difficulties with night vision	Raramente (1–4%)
Farsightedness	Raramente (1–4%)
Involuntary, rapid, rhythmic eye movements	Raramente (1–4%)
Visual impairment	Raramente (1–4%)

Abnormality of the musculoskeletal system

Trait	Frequenza di osservazione
Involuntary muscle stiffness, contraction, or spasm	Spesso (30–79%)
Lower limb spasticity	Spesso (30–79%)
Uncontrollable movement in upper arms	Spesso (30–79%)
Scoliosis	A volte (5–29%)
Double-Jointed	Raramente (1–4%)
Hunched back	Raramente (1–4%)
Low muscle tone	Raramente (1–4%)

Abnormality of the genitourinary system

Trait	Frequenza di osservazione
Loss of bladder control	Spesso (30–79%)
Hypospadias	Raramente (1–4%)
Renal failure	Raramente (1–4%)
Undescended testes	Raramente (1–4%)

Abnormality of limbs

Trait	Frequenza di osservazione
Club feet	Raramente (1–4%)
Small hand	Raramente (1–4%)
Tapered finger	Raramente (1–4%)

Laboratory abnormality

Trait	Frequenza di osservazione
Diabetes mellitus	Raramente (1–4%)
Fluid retention	Raramente (1–4%)

Abnormality of blood and blood-forming tissues

Trait	Frequenza di osservazione
Low blood cell count	Raramente (1–4%)

Abnormality of the cardiovascular system

Trait	Frequenza di osservazione
High blood pressure	Raramente (1–4%)

Abnormality of the digestive system

Trait	Frequenza di osservazione
Scar tissue replaces healthy tissue in the liver	Raramente (1–4%)

Growth abnormality

Trait	Frequenza di osservazione
Obesity	A volte (5–29%)

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

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