Traits

Traits linked to SAMD9L

sterile alpha motif domain containing 9 like

The Human Phenotype Ontology links 40 traits to SAMD9L, 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
Degeneration of cerebellum	Always
Increased reflexes	Always
Abnormal gait	Very often (80–99%)
Absent/small cerebellum	Very often (80–99%)
Ataxia	Very often (80–99%)
Unsteady walk	Very often (80–99%)
Abnormal speech pattern	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Lack of coordination of movement	Often (30–79%)
Sensory axonal neuropathy	Often (30–79%)
Abnormal cerebral white matter morphology	Sometimes (5–29%)
Babinski sign	Sometimes (5–29%)
Decreased sensation in extremities	Sometimes (5–29%)
Difficulty performing quick and alternating movements	Sometimes (5–29%)
Loss of ability to walk	Sometimes (5–29%)
Decreased nerve conduction velocity	Not recorded
Hyperactive deep tendon reflexes	Not recorded
Impaired vibration sensation in the lower limbs	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Acute myeloid leukemia	Very often (80–99%)
Abnormal macrophage morphology	Often (30–79%)
Abnormality of neutrophils	Often (30–79%)
Acute myelomonocytic leukemia	Often (30–79%)
Hypoplastic anemia	Often (30–79%)
Abnormal platelet function	Sometimes (5–29%)
Low blood cell count	Sometimes (5–29%)
Increased mean corpuscular volume	Not recorded
Low blood neutrophil count	Not recorded
Low number of red blood cells or hemoglobin	Not recorded
Low platelet count	Not recorded
Myelodysplasia	Not recorded

Abnormality of the eye

Trait	How often it is seen
Gaze-evoked nystagmus	Always
Double vision	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Cross-eyed	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
High-arched foot	Sometimes (5–29%)
Abnormal rhythmic movements of ankle	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating antibody level	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	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 SAMD9L and how often each is seen. Find out more at hpo.jax.org.

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