Traits

Traits linked to SLC12A2

solute carrier family 12 member 2

The Human Phenotype Ontology links 39 traits to SLC12A2, 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
Absent speech development	Always
Global developmental delay	Always
Increased reflexes	Always
Intellectual disability, severe	Always
Profound global developmental delay	Always
Autism spectrum disorder	Often (30–79%)
Motor delay	Sometimes (5–29%)
Agenesis of corpus callosum	Not recorded
Cortical dysplasia	Not recorded
Delayed ability to walk	Not recorded
Delayed speech and language development	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big lower jaw	Always
Blockage of the rear opening of the nasal cavity	Always
Broad chin	Always
Decreased salivary flow	Always
Decreased size of teeth	Always
Narrow forehead	Always
Wide mouth	Always

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Always
Chronic constipation	Always
Feeding difficulties	Always
Intestinal malrotation	Always
Midgut malrotation	Always
Abnormal connection between trachea and esophagus	Sometimes (5–29%)
Poor swallowing	Not recorded

Abnormality of the ear

Trait	How often it is seen
Bilateral sensorineural hearing impairment	Always
Low-set ears	Always
Narrow ear canal	Always
Profound sensorineural hearing impairment	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Always
Pigeon chest	Always
Involuntary muscle stiffness, contraction, or spasm	Not recorded
Spasticity and rigidity of muscles	Not recorded

Abnormality of limbs

Trait	How often it is seen
Coxa valga	Always
Webbed 2nd and 3rd toes	Always
Hip dislocation	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Absence of tears in the eyes	Always

Laboratory abnormality

Trait	How often it is seen
Increased CSF albumin concentration	Always

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 SLC12A2 and how often each is seen. Find out more at hpo.jax.org.

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