Traits

Traits linked to PTRH2

peptidyl-tRNA hydrolase 2

The Human Phenotype Ontology links 65 traits to PTRH2, by body system: features seen in people with one of the gene's rare conditions.

PTRH2

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Always
Degeneration of cerebellum	Always
Demyelinating peripheral neuropathy	Always
Global developmental delay	Always
IQ between 34 and 49	Always
Lack of coordination of movement	Always
Motor delay	Always
Cerebellar hemisphere hypoplasia	Often (30–79%)
EEG abnormality	Often (30–79%)
Decreased motor nerve conduction velocity	Sometimes (5–29%)
Decreased sensory nerve conduction velocity	Sometimes (5–29%)
Generalized myoclonic seizure	Sometimes (5–29%)
Epilepsy	Rarely (1–4%)
Decreased reflex response	Not recorded
Intellectual disability	Not recorded

Abnormality of limbs

Trait	How often it is seen
Attachment of thumb close to wrist	Always
Abnormal feet structure	Often (30–79%)
Abnormality of the hand	Often (30–79%)
Club feet	Often (30–79%)
Hip dislocation	Often (30–79%)
Long fingers	Often (30–79%)
Shortening of the achilles tendon	Often (30–79%)
Ulnar deviation of the 2nd finger	Often (30–79%)
Ulnar deviation of the 3rd finger	Often (30–79%)
Abnormality of the big toe	Sometimes (5–29%)
Contractures of the foot joints	Sometimes (5–29%)
Dislocated hip since birth	Sometimes (5–29%)
Joint contracture of the hand	Sometimes (5–29%)
Talipes equinovalgus	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Broad head shape	Always
Development of small head that was not present at birth	Always
Midface retrusion	Always
Myopathic facies	Always
Thin red part of the upper lip	Always
Abnormal facial shape	Very often (80–99%)
Abnormality of the midface	Often (30–79%)
Bell's palsy	Often (30–79%)
Progressively abnormally small cranium	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Hepatic fibrosis	Always
Inability to properly digest food due to lack of pancreatic digestive enzymes	Always
Enlarged liver	Often (30–79%)
Pancreatic fibrosis	Often (30–79%)
Abnormal liver parenchyma morphology	Sometimes (5–29%)
Absent/small pancreas	Sometimes (5–29%)
Hyperechogenic pancreas	Sometimes (5–29%)
Fat in feces	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Weakness of outermost muscles	Always
Distal muscle wasting	Very often (80–99%)
Low muscle tone	Often (30–79%)
Low muscle tone, in neonatal onset	Often (30–79%)
Skeletal muscle fibrosis	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Growth delay as children	Always
Mild growth deficiency	Often (30–79%)
Short stature	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Always
Delayed puberty	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Outward facing eye ball	Always
Wide-set eyes	Always

Laboratory abnormality

Trait	How often it is seen
Fatty infiltration of liver	Always
Diabetes mellitus	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Scrotum surrounds penis	Always

Abnormality of the respiratory system

Trait	How often it is seen
Low blood oxygen level	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 PTRH2 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