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

Abnormality of head or neck

Trait	How often it is seen
Coarse facial features	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Drooping lower lip	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Wide nose	Often (30–79%)
Big lower jaw	Sometimes (5–29%)
Corners of eye widely separated	Sometimes (5–29%)
Cleft palate	Rarely (1–4%)
Eye folds	Rarely (1–4%)
Highly arched eyebrow	Rarely (1–4%)
Increased thickness of skull cap	Rarely (1–4%)
Long face	Rarely (1–4%)
Recurrent colds	Rarely (1–4%)
Short philtrum	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Often (30–79%)
Upgaze palsy	Often (30–79%)
Severe near sightedness	Sometimes (5–29%)
Cross-eyed	Rarely (1–4%)
Difficulties with night vision	Rarely (1–4%)
Farsightedness	Rarely (1–4%)
Involuntary, rapid, rhythmic eye movements	Rarely (1–4%)
Visual impairment	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Lower limb spasticity	Often (30–79%)
Uncontrollable movement in upper arms	Often (30–79%)
Scoliosis	Sometimes (5–29%)
Double-Jointed	Rarely (1–4%)
Hunched back	Rarely (1–4%)
Low muscle tone	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Often (30–79%)
Hypospadias	Rarely (1–4%)
Renal failure	Rarely (1–4%)
Undescended testes	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Club feet	Rarely (1–4%)
Small hand	Rarely (1–4%)
Tapered finger	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Diabetes mellitus	Rarely (1–4%)
Fluid retention	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low blood cell count	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Scar tissue replaces healthy tissue in the liver	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Obesity	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test