Traits

Traits linked to PRORP

protein only RNase P catalytic subunit

The Human Phenotype Ontology links 44 traits to PRORP, 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 reflexes	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Dysplastic corpus callosum	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Generalized-onset seizure	Sometimes (5–29%)
Headache	Sometimes (5–29%)
Impaired vibratory sensation	Sometimes (5–29%)
Memory impairment	Sometimes (5–29%)
Migraine	Sometimes (5–29%)
Numbness	Sometimes (5–29%)
Periventricular nodular heterotopia	Sometimes (5–29%)
Periventricular white matter hyperintensities	Sometimes (5–29%)
Psychosis	Sometimes (5–29%)
Severe global developmental delay	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Weakness of one side of body	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Hemianopia	Sometimes (5–29%)
Optic disc pallor	Sometimes (5–29%)
Retrobulbar optic neuritis	Sometimes (5–29%)
Tonic pupil	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Decreased volume of lip	Sometimes (5–29%)
Development of small head that was not present at birth	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Small retruded chin	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated lactate:pyruvate ratio	Sometimes (5–29%)
High blood sugar	Sometimes (5–29%)
Higher than normal levels of lactate in blood	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Absence of acoustic reflex	Often (30–79%)
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Scoliosis	Sometimes (5–29%)
Spasticity and rigidity of muscles	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Lack of energy and strength	Sometimes (5–29%)
Muscle ache	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Obesity	Sometimes (5–29%)
Prenatal growth deficiency	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

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

Abnormality of limbs

Trait	How often it is seen
Lower limb muscle weakness	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Elevated heart rate	Sometimes (5–29%)

Abnormality of the digestive system

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

Abnormality of the endocrine system

Trait	How often it is seen
Hypergonadotropic hypogonadism	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Primary amenorrhea	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 PRORP and how often each is seen. Find out more at hpo.jax.org.

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