Traits

Traits linked to SLC44A1

solute carrier family 44 member 1

The Human Phenotype Ontology links 19 traits to SLC44A1, 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
Difficulty articulating speech	Very often (80–99%)
Mental deterioration	Very often (80–99%)
Progressive cerebellar ataxia	Very often (80–99%)
Babinski sign	Often (30–79%)
Clonus	Often (30–79%)
Degeneration of cerebellum	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Dystonia	Often (30–79%)
Globus pallidus hypointensity on susceptibility-weighted imaging	Often (30–79%)
Substantia nigra hypointensity on susceptibility-weighted imaging	Often (30–79%)
EEG abnormality	Sometimes (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Very often (80–99%)
Loss of bowel control	Often (30–79%)
Prolonged yellowing of skin in newborn	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	Always
Slow eye movements	Very often (80–99%)
Cross-eyed	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	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 SLC44A1 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