Traits

Traits linked to POLRMT

RNA polymerase mitochondrial

The Human Phenotype Ontology links 48 traits to POLRMT, 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
Global developmental delay	Often (30–79%)
Intellectual disability	Often (30–79%)
Absent speech development	Sometimes (5–29%)
Delayed speech and language development	Sometimes (5–29%)
Elevated brain lactate level by MRS	Sometimes (5–29%)
Mild global developmental delay	Sometimes (5–29%)
Seizure affecting one half of brain	Sometimes (5–29%)
Severe global developmental delay	Sometimes (5–29%)
Thin corpus callosum	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Muscle tissue disease	Often (30–79%)
Hypophosphatemic rickets	Sometimes (5–29%)
Muscle degeneration	Sometimes (5–29%)
Muscle weakness	Sometimes (5–29%)
Proximal neurogenic muscle weakness	Sometimes (5–29%)
Type 2 muscle fiber predominance	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Sometimes (5–29%)
Higher than normal levels of lactate in blood	Sometimes (5–29%)
Low blood magnesium levels	Sometimes (5–29%)
Low blood phosphate level	Sometimes (5–29%)
Mildly elevated creatine kinase	Sometimes (5–29%)
Organic aciduria	Sometimes (5–29%)
Renal Fanconi syndrome	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Open mouth	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormally close eyes	Sometimes (5–29%)
Blue outer white part of eyeball	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Drooping of both upper eyelids	Sometimes (5–29%)
Outward facing eye ball	Sometimes (5–29%)
Progressive external ophthalmoplegia	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Enuresis	Sometimes (5–29%)
Medullary nephrocalcinosis	Sometimes (5–29%)
Proximal tubulopathy	Sometimes (5–29%)
Stage 3 chronic kidney disease	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Club feet	Sometimes (5–29%)
Outward bow-leggedness	Sometimes (5–29%)
Single transverse palmar crease	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Low platelet count	Sometimes (5–29%)

Abnormality of the digestive system

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

Abnormality of the ear

Trait	How often it is seen
Hearing loss, high-frequency	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	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 POLRMT and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test