Traits

Traits linked to FASTKD2

FASTK mitochondrial RNA regulator 2

The Human Phenotype Ontology links 47 traits to FASTKD2, by body system: features seen in people with one of the gene's rare conditions.

FASTKD2

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Always
Brisk reflexes	Always
Instability or lack of coordination of central trunk muscles	Always
Loss of developmental milestones	Always
Degeneration of cerebrum	Often (30–79%)
Disorder of involuntary muscle movements	Often (30–79%)
Epilepsy	Often (30–79%)
Global developmental delay	Often (30–79%)
Slurred speech	Often (30–79%)
Abnormal basal ganglia MRI signal intensity	Not recorded
Delayed ability to walk	Not recorded
Intellectual disability	Not recorded
Leukoencephalopathy	Not recorded
Motor delay	Not recorded

Laboratory abnormality

Trait	How often it is seen
Increased lactate in body	Always
Higher than normal levels of lactate in blood	Often (30–79%)
Abnormal urinary amino-acid findings	Not recorded
Glucose in urine	Not recorded
High urine phosphate levels	Not recorded
High urine protein levels	Not recorded
Increased CSF lactate	Not recorded
Increased hepatocellular lipid droplets	Not recorded
Increased intramyocellular lipid droplets	Not recorded
Renal Fanconi syndrome	Not recorded

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	Always
Weakness of muscles controlling eye movement	Always
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Drooping upper eyelid	Not recorded
Pigmentary retinopathy	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cytochrome C oxidase-negative muscle fibers	Always
Generalized decreased muscle tone	Always
Low muscle tone	Always
Decreased lung function due to weak breathing muscles	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Always
Breathing difficulties	Not recorded
Exertional breathlessness	Not recorded

Abnormality of head or neck

Trait	How often it is seen
High palate	Not recorded
Weakness of facial musculature	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Decreased liver function	Not recorded
Enlarged liver	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Not recorded

Abnormality of limbs

Trait	How often it is seen
Hyporeflexia of lower limbs	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged and thickened heart muscle	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal function of filtrating structures in kidney	Not recorded

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	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 FASTKD2 and how often each is seen. Find out more at hpo.jax.org.

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