Traits

Traits linked to MTOR

mechanistic target of rapamycin kinase

The Human Phenotype Ontology links 98 traits to MTOR, by body system: features seen in people with one of the gene's rare conditions.

MTOR

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Always
Ventriculomegaly	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%)
Abnormal speech pattern	Often (30–79%)
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%)
Generalized-onset seizure	Often (30–79%)
Global developmental delay	Often (30–79%)
Hemihypsarrhythmia	Often (30–79%)
Hemimegalencephaly	Often (30–79%)
More grooves in brain	Often (30–79%)
Reduced cerebral white matter volume	Often (30–79%)
Seizure affecting one half of brain	Often (30–79%)
Specific learning disability	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Abnormal corpus callosum morphology	Sometimes (5–29%)
Abnormal gait	Sometimes (5–29%)
Abnormal neuron shape	Sometimes (5–29%)
Autism spectrum disorder	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%)
More active than typical	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%)
Astrocytosis	Not recorded
Cognitive impairment	Not recorded
Cortical dysplasia	Not recorded
Focal cortical dysplasia type II	Not recorded
Focal impaired awareness seizure	Not recorded
Focal white matter lesions	Not recorded
Perisylvian polymicrogyria	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Always
Depressed nasal bridge	Always
Downward slanting of the opening between the eyelids	Always
High forehead	Always
Long philtrum	Always
Open mouth	Always
Short nose	Always
Wide mouth	Always
Abnormal facial shape	Often (30–79%)
Abnormality of head shape	Often (30–79%)
Abnormality of the skull	Often (30–79%)
Frontal bossing	Often (30–79%)
Prominent forehead	Sometimes (5–29%)
Short chin	Rarely (1–4%)
Midface retrusion	Not recorded
Smooth philtrum	Not recorded
Thin red part of the upper lip	Not recorded
Wider-than-typical soft spot of skull	Not recorded

Abnormality of limbs

Trait	How often it is seen
Deep palm line	Always
Deep wrinkles in soles of feet	Always
Dropped arches	Sometimes (5–29%)
Disproportionately short upper portion of limb	Not recorded
Short outermost finger bone	Not recorded
Short proximal phalanx of finger	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Gap between large left and right abdominal muscles	Always
Umbilical hernia	Always
Belly sticks out	Sometimes (5–29%)
Lactose intolerance	Sometimes (5–29%)
Intestinal polyp	Rarely (1–4%)
Feeding difficulties	Not recorded

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Always
Cross-eyed	Sometimes (5–29%)
Hemianopia	Sometimes (5–29%)
Oculomotor nerve palsy	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Birthmark	Often (30–79%)
Curly hair	Often (30–79%)
Capillary malformation	Sometimes (5–29%)
Patchy loss of skin color	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Small chest	Always
Functional motor deficit	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Sometimes (5–29%)
Hypospadias	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Asthma	Sometimes (5–29%)
Allergy	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Low blood sugar in newborn	Rarely (1–4%)
Low blood sugar	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating IgA concentration	Always

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low platelet count	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Strawberry mark	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Birth weight > 90th percentile	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 MTOR and how often each is seen. Find out more at hpo.jax.org.

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