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Traits
Traits linked to RPS6KA3
ribosomal protein S6 kinase A3
The Human Phenotype Ontology links 126 traits to RPS6KA3, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Global developmental delay | Always |
| Intellectual disability | Always |
| Intellectual disability, mild | Always |
| Ventriculomegaly | Always |
| Abnormal speech pattern | Very often (80–99%) |
| Severe global developmental delay | Very often (80–99%) |
| Abnormal gait | Often (30–79%) |
| Delayed speech and language development | Often (30–79%) |
| Abnormality of neuronal migration | Sometimes (5–29%) |
| Absent/small cerebellum | Sometimes (5–29%) |
| Aplasia/Hypoplasia of the corpus callosum | Sometimes (5–29%) |
| Behavioral abnormality | Sometimes (5–29%) |
| Bipolar disorder | Sometimes (5–29%) |
| Decrease in size of the outer layer of the brain due to loss of brain cells | Sometimes (5–29%) |
| Depression | Sometimes (5–29%) |
| Epilepsy | Sometimes (5–29%) |
| Motor delay | Sometimes (5–29%) |
| Pauses in breathing while sleeping | Sometimes (5–29%) |
| Psychosis | Sometimes (5–29%) |
| Self-injurious behavior | Sometimes (5–29%) |
| Sudden loss of muscle tone | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Thoracic lordosis | Always |
| Abnormal vertebral body morphology | Very often (80–99%) |
| Delayed bone maturation | Very often (80–99%) |
| Double-Jointed | Very often (80–99%) |
| Funnel chest | Very often (80–99%) |
| Hunched back | Very often (80–99%) |
| Low muscle tone | Very often (80–99%) |
| Pigeon chest | Very often (80–99%) |
| Scoliosis | Very often (80–99%) |
| Narrow iliac wing | Often (30–79%) |
| Progressive spasticity | Often (30–79%) |
| Spasticity and rigidity of muscles | Often (30–79%) |
| Kyphoscoliosis | Sometimes (5–29%) |
| Muscle degeneration | Sometimes (5–29%) |
| Muscle weakness | Sometimes (5–29%) |
| Bifid sternum | Not recorded |
| Intervertebral space narrowing | Not recorded |
| Rounded lower back | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Finger joint hyperextensibility | Always |
| Tapered finger | Always |
| Abnormal shape of shaft of long bone | Very often (80–99%) |
| Broad finger | Very often (80–99%) |
| Large hands | Very often (80–99%) |
| Dropped arches | Often (30–79%) |
| Metacarpal pseudoepiphysis | Often (30–79%) |
| Short outermost finger bone | Often (30–79%) |
| Shortened long bone of hand | Often (30–79%) |
| Long foot | Sometimes (5–29%) |
| Broad palm | Not recorded |
| Coxa valga | Not recorded |
| Drumstick shaped digital bones | Not recorded |
| Single transverse palmar crease | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Short chordae tendineae of the mitral valve | Often (30–79%) |
| Short chordae tendineae of the tricuspid valve | Often (30–79%) |
| Abnormal aortic valve morphology | Sometimes (5–29%) |
| Abnormal cardiovascular system morphology | Sometimes (5–29%) |
| Abnormal mitral valve morphology | Sometimes (5–29%) |
| Abnormal tricuspid valve morphology | Sometimes (5–29%) |
| Disease of the heart muscle | Sometimes (5–29%) |
| Cutis marmorata | Not recorded |
| Mitral regurgitation | Not recorded |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Hyperconvex fingernails | Often (30–79%) |
| Loose redundant skin | Often (30–79%) |
| Small fingernail | Often (30–79%) |
| Coarse hair | Not recorded |
| Hanging skin | Not recorded |
| Persistent blue color of hands or feet | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Wide-set eyes | Always |
| Abnormal retinal pigmentation | Sometimes (5–29%) |
| Clouding of the lens of the eye | Sometimes (5–29%) |
| Cross-eyed | Sometimes (5–29%) |
| Optic atrophy | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Short stature | Always |
| Growth delay as children | Often (30–79%) |
| Obesity | Sometimes (5–29%) |
| Small for gestational age | Sometimes (5–29%) |
| Decreased body weight | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Feeding difficulties in infancy | Often (30–79%) |
| Inguinal hernia | Sometimes (5–29%) |
| Rectum protrudes through anus | Not recorded |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Hearing impairment | Always |
| Prominent ear | Always |
| Sensorineural hearing impairment | Sometimes (5–29%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Sagging uterus | Not recorded |
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 RPS6KA3 and how often each is seen. Find out more at hpo.jax.org.
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