Traits

Traits linked to AKT3

AKT serine/threonine kinase 3

The Human Phenotype Ontology links 50 traits to AKT3, 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
Hemimegalencephaly	Always
Enlarged brain	Very often (80–99%)
Epilepsy	Very often (80–99%)
Hyperintensity of cerebral white matter on MRI	Very often (80–99%)
Interictal EEG abnormality	Very often (80–99%)
More grooves in brain	Very often (80–99%)
Too much cerebrospinal fluid in the brain	Very often (80–99%)
EEG with burst suppression	Often (30–79%)
EEG with focal sharp slow waves	Often (30–79%)
EEG with focal spikes	Often (30–79%)
EEG with polyspike wave complexes	Often (30–79%)
Focal cortical dysplasia	Often (30–79%)
Focal motor seizure	Often (30–79%)
Global developmental delay	Often (30–79%)
Hemihypsarrhythmia	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Abnormal neuron shape	Sometimes (5–29%)
Cranial nerve paralysis	Sometimes (5–29%)
Epileptic spasm	Sometimes (5–29%)
Fewer and broader ridges in brain	Sometimes (5–29%)
Focal tonic seizure	Sometimes (5–29%)
Gliosis	Sometimes (5–29%)
Gray matter heterotopia	Sometimes (5–29%)
Intellectual disability, severe	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Repeated seizures without recovery between them	Sometimes (5–29%)
Sudden loss of muscle tone	Sometimes (5–29%)
Weakness of one side of body	Sometimes (5–29%)
Intellectual disability	Not recorded
Underdevelopment of part of brain called corpus callosum	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Very often (80–99%)
Abnormal of nasal shape	Often (30–79%)
Abnormality of head shape	Often (30–79%)
Abnormality of the skull	Often (30–79%)
Corners of eye widely separated	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
High forehead	Often (30–79%)
Narrow mouth	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiac septum morphology	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Mitral regurgitation	Often (30–79%)
Cutis marmorata	Not recorded

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Often (30–79%)
Hemianopia	Sometimes (5–29%)
Oculomotor nerve palsy	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Extra little finger	Very often (80–99%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal localisation of kidneys	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Hyperelastic skin	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Functional motor deficit	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 AKT3 and how often each is seen. Find out more at hpo.jax.org.

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