Traits

Traits linked to CLCN6

Cl-/H+ antiporter 6

The Human Phenotype Ontology links 23 traits to CLCN6, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Alternating cross eyes	Often (30–79%)
Cerebral visual impairment	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Lazy eye	Often (30–79%)
Wide-set eyes	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Motor delay	Always
Abnormality of movement	Often (30–79%)
Damage to nerves that sense feeling	Often (30–79%)
EEG abnormality	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Often (30–79%)
Increased variability in muscle fiber diameter	Often (30–79%)
Low muscle tone in trunk	Often (30–79%)
Type 2 muscle fiber predominance	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Highly arched eyebrow	Often (30–79%)
Long philtrum	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Excessive sweating	Often (30–79%)
Trichorrhexis nodosa	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Gastrostomy tube feeding in infancy	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Lack of bladder control due to nervous system injury	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Always

Laboratory abnormality

Trait	How often it is seen
Abnormality of temperature regulation	Often (30–79%)

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 CLCN6 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