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

Abnormality of head or neck

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

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Deeply set eye	Sageli (30–79%)
Upgaze palsy	Sageli (30–79%)
Severe near sightedness	Mõnikord (5–29%)
Cross-eyed	Harva (1–4%)
Difficulties with night vision	Harva (1–4%)
Farsightedness	Harva (1–4%)
Involuntary, rapid, rhythmic eye movements	Harva (1–4%)
Visual impairment	Harva (1–4%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Involuntary muscle stiffness, contraction, or spasm	Sageli (30–79%)
Lower limb spasticity	Sageli (30–79%)
Uncontrollable movement in upper arms	Sageli (30–79%)
Scoliosis	Mõnikord (5–29%)
Double-Jointed	Harva (1–4%)
Hunched back	Harva (1–4%)
Low muscle tone	Harva (1–4%)

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Loss of bladder control	Sageli (30–79%)
Hypospadias	Harva (1–4%)
Renal failure	Harva (1–4%)
Undescended testes	Harva (1–4%)

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Club feet	Harva (1–4%)
Small hand	Harva (1–4%)
Tapered finger	Harva (1–4%)

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Diabetes mellitus	Harva (1–4%)
Fluid retention	Harva (1–4%)

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Low blood cell count	Harva (1–4%)

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
High blood pressure	Harva (1–4%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Scar tissue replaces healthy tissue in the liver	Harva (1–4%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Obesity	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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