Traits

Traits linked to SLC5A7

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The Human Phenotype Ontology links 34 traits to SLC5A7, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Increased jitter at single fiber EMG	Always
Arthrogryposis multiplex congenita	Often (30–79%)
Fatigable weakness	Often (30–79%)
Low muscle tone	Often (30–79%)
Muscle weakness	Often (30–79%)
Hunched back	Sometimes (5–29%)
Muscle degeneration	Sometimes (5–29%)
Neck muscle weakness	Sometimes (5–29%)
Proximal neurogenic muscle weakness	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Bulbar palsy	Not recorded
Distal muscle wasting	Not recorded
Weakness of outermost muscles	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed ability to walk	Always
Motor delay	Always
Intellectual disability	Often (30–79%)
Tremor	Sometimes (5–29%)
Abnormal gait	Not recorded
Decreased reflex response	Not recorded
Inability to move vocal cords	Not recorded
Peripheral neuropathy	Not recorded
Weakness of the vocal cords	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Very often (80–99%)
Poor suck	Often (30–79%)
Feeding difficulties	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Very often (80–99%)
Slow breathing	Often (30–79%)
Noisy breathing	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Sometimes (5–29%)
High-arched foot	Not recorded

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Always
Weakness of muscles controlling eye movement	Always

Abnormality of head or neck

Trait	How often it is seen
Bell's palsy	Always

Abnormality of the voice

Trait	How often it is seen
Inability to produce voice sounds	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 SLC5A7 and how often each is seen. Find out more at hpo.jax.org.

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