Traits

Traits linked to SGSM3

small G protein signaling modulator 3

The Human Phenotype Ontology links 54 traits to SGSM3, by body system: features seen in people with one of the gene's rare conditions.

SGSM3

Abnormality of the nervous system

Trait	How often it is seen
Aggressive behavior	Always
Delayed ability to walk	Always
Delayed speech and language development	Always
Drowsiness	Always
Epilepsy	Always
Intellectual disability, mild	Always
IQ between 34 and 49	Always
Irritability	Always
Mild global developmental delay	Always
Poor speech	Always
Intellectual disability	Very often (80–99%)
Delayed ability to sit	Often (30–79%)
Anxiety	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Boiling mad	Sometimes (5–29%)
Impulsivity	Sometimes (5–29%)
Low frustration tolerance	Sometimes (5–29%)
Obsessive-compulsive trait	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Nasal tip, upturned	Always
Long, narrow head	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Diarrhea	Always
Poor suck	Always
Celiac disease	Often (30–79%)
Acid reflux	Sometimes (5–29%)
Chronic constipation	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Excessive inward curvature of lower spine	Always
Permanent flexion of the finger or toe	Always
Scoliosis	Always
Spasticity and rigidity of muscles	Always
Low muscle tone	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Astigmatism	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Coronary artery fistula	Always
High blood pressure	Always
Left ventricular hypertrophy	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Proportionate short stature	Always
Short stature	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Hydronephrosis	Always
Short penis	Always

Abnormality of limbs

Trait	How often it is seen
High-arched foot	Always

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Always

Abnormality of the immune system

Trait	How often it is seen
Recurrent bronchitis	Always

Abnormality of the respiratory system

Trait	How often it is seen
Apneic episodes in infancy	Always

Laboratory abnormality

Trait	How often it is seen
Fatty infiltration of liver	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 SGSM3 and how often each is seen. Find out more at hpo.jax.org.

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