Traits

Traits linked to SAMD12

sterile alpha motif domain containing 12

The Human Phenotype Ontology links 16 traits to SAMD12, 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
EEG abnormality	Very often (80–99%)
Enhancement of the C-reflex	Very often (80–99%)
Giant somatosensory evoked potentials	Very often (80–99%)
Hand tremor	Very often (80–99%)
Jerking	Very often (80–99%)
Generalized-onset seizure	Often (30–79%)
Grand mal seizures	Often (30–79%)
Seizure affecting one half of brain	Often (30–79%)
Headache	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
EEG with irregular generalized spike and wave complexes	Not recorded
EEG with photoparoxysmal response	Not recorded
Generalized myoclonic seizure	Not recorded
Jerk-locked premyoclonus spikes	Not recorded
Tremor	Not recorded

Abnormality of the eye

Trait	How often it is seen
Amaurosis fugax	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 SAMD12 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