Traits

Traits linked to PEX2

peroxisomal biogenesis factor 2

The Human Phenotype Ontology links 155 traits to PEX2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Global developmental delay	Visada
Abnormality of movement	Labai dažnai (80–99%)
Cognitive impairment	Labai dažnai (80–99%)
Diminished deep tendon reflex	Labai dažnai (80–99%)
EEG abnormality	Labai dažnai (80–99%)
Epilepsy	Labai dažnai (80–99%)
Increased reflexes	Labai dažnai (80–99%)
Loss of developmental milestones	Labai dažnai (80–99%)
Profound global developmental delay	Labai dažnai (80–99%)
Severe global developmental delay	Labai dažnai (80–99%)
Abnormality of neuronal migration	Dažnai (30–79%)
Absent reflexes	Dažnai (30–79%)
Ataxia	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Fewer and broader ridges in brain	Dažnai (30–79%)
More grooves in brain	Dažnai (30–79%)
Agenesis of corpus callosum	Kartais (5–29%)
Cerebellar vermis atrophy	Kartais (5–29%)
Colpocephaly	Kartais (5–29%)
Degeneration of cerebellum	Kartais (5–29%)
Generalized-onset seizure	Kartais (5–29%)
Involuntary writhing movements in fingers, hands, toes, and feet	Kartais (5–29%)
Lethargy	Kartais (5–29%)
Small cerebellum	Kartais (5–29%)
Vegetative state	Kartais (5–29%)
Decreased reflex response	Neužfiksuota
Difficulty articulating speech	Neužfiksuota
Intellectual disability	Neužfiksuota
Lack of coordination of movement	Neužfiksuota
Tremor	Neužfiksuota
Unsteady walk	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Abnormality of the palate	Labai dažnai (80–99%)
Depressed nasal bridge	Labai dažnai (80–99%)
Eye folds	Labai dažnai (80–99%)
Flat face	Labai dažnai (80–99%)
High forehead	Labai dažnai (80–99%)
Long, narrow head	Labai dažnai (80–99%)
Nasal tip, upturned	Labai dažnai (80–99%)
Upward slanting of the opening between the eyelids	Labai dažnai (80–99%)
Wide nasal bridge	Labai dažnai (80–99%)
Wider-than-typical soft spot of skull	Labai dažnai (80–99%)
Abnormally small head	Dažnai (30–79%)
Big calvaria	Dažnai (30–79%)
Flat back of skull	Dažnai (30–79%)
Flattened bony protrusion above eyes	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Abnormality of the face	Kartais (5–29%)
Abnormality of the tongue	Kartais (5–29%)
Bell's palsy	Kartais (5–29%)
Persistent open anterior fontanelle	Kartais (5–29%)
Thickened skin folds of neck	Kartais (5–29%)
Cleft palate	Neužfiksuota
Fullness of eyelids	Neužfiksuota
Round face	Neužfiksuota
Wide fontanelles	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Rod-cone dystrophy	Visada
Corneal opacity	Labai dažnai (80–99%)
Cross-eyed	Labai dažnai (80–99%)
Difficulties with night vision	Labai dažnai (80–99%)
Involuntary, rapid, rhythmic eye movements	Labai dažnai (80–99%)
Limited peripheral vision	Labai dažnai (80–99%)
Optic atrophy	Labai dažnai (80–99%)
Visual impairment	Labai dažnai (80–99%)
Abnormal chorioretinal morphology	Dažnai (30–79%)
Abnormal retinal pigmentation	Dažnai (30–79%)
Clouding of the lens of the eye	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Posterior embryotoxon	Dažnai (30–79%)
Glaucoma	Kartais (5–29%)
Pendular nystagmus	Kartais (5–29%)
Speckled iris	Kartais (5–29%)
Breakdown of light-sensitive cells in back of eye	Neužfiksuota
Oculomotor apraxia	Neužfiksuota
Opacification of the corneal stroma	Neužfiksuota
Optic nerve dysplasia	Neužfiksuota
Pigmentary retinopathy	Neužfiksuota
Slow eye movements	Neužfiksuota
Wide-set eyes	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Double-Jointed	Visada
Abnormal skeletal development	Labai dažnai (80–99%)
Low muscle tone	Labai dažnai (80–99%)
Progressive muscle weakness	Labai dažnai (80–99%)
Severely decreased muscle tone	Labai dažnai (80–99%)
Speckled calcifications in end part of bone	Labai dažnai (80–99%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Abnormal shape of end part of bone	Kartais (5–29%)
Difficulty running	Neužfiksuota
Generalized decreased muscle tone	Neužfiksuota
Low muscle tone, in neonatal onset	Neužfiksuota
Permanent flexion of the finger or toe	Neužfiksuota
Stippled chondral calcification	Neužfiksuota

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Abnormality of the liver	Labai dažnai (80–99%)
Enlarged liver	Labai dažnai (80–99%)
Feeding difficulties in infancy	Labai dažnai (80–99%)
Jaundice	Labai dažnai (80–99%)
Liver failure	Labai dažnai (80–99%)
Malabsorption	Dažnai (30–79%)
Pyloric stenosis	Dažnai (30–79%)
Poor suck	Kartais (5–29%)
Slowed or blocked flow of bile from liver	Kartais (5–29%)
Decreased liver function	Neužfiksuota
Intrahepatic biliary dysgenesis	Neužfiksuota

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Tricuspid regurgitation	Dažnai (30–79%)
Abnormal heart rate	Kartais (5–29%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Aortic regurgitation	Kartais (5–29%)
Disease of the heart muscle	Kartais (5–29%)
Heart murmur	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Mitral regurgitation	Kartais (5–29%)
Enlarged liver and spleen	Neužfiksuota
Increased spleen size	Neužfiksuota

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Very long chain fatty acid accumulation	Visada
Elevated levels of phytanic acid	Labai dažnai (80–99%)
Laboratory abnormality	Labai dažnai (80–99%)
Elevated circulating alanine aminotransferase concentration	Dažnai (30–79%)
Elevated circulating aspartate aminotransferase concentration	Dažnai (30–79%)
Increased circulating very long-chain fatty acid concentration	Dažnai (30–79%)
Conjugated hyperbilirubinemia	Kartais (5–29%)
Elevated alkaline phosphatase	Kartais (5–29%)
Elevated gamma-glutamyltransferase level	Kartais (5–29%)
Increased circulating lactate dehydrogenase concentration	Kartais (5–29%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Enlarged clitoris	Dažnai (30–79%)
Hydronephrosis	Dažnai (30–79%)
Hypospadias	Dažnai (30–79%)
Multicystic kidney dysplasia	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Polycystic kidney dysplasia	Kartais (5–29%)
Cystic kidney disease	Neužfiksuota
Renal cortical microcysts	Neužfiksuota

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Bilateral single transverse palmar creases	Dažnai (30–79%)
High-arched foot	Kartais (5–29%)
Club feet	Neužfiksuota
Front half of foot turns inward	Neužfiksuota
Outward turned elbows	Neužfiksuota
Single transverse palmar crease	Neužfiksuota

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Abnormally shaped ears	Labai dažnai (80–99%)
Ears rotated toward back of head	Labai dažnai (80–99%)
Sensorineural hearing impairment	Labai dažnai (80–99%)
Hearing impairment	Dažnai (30–79%)
Abnormal helix morphology	Neužfiksuota
Low-set ears	Neužfiksuota

Growth abnormality

Trait	Kaip dažnai pasireiškia
Faltering weight	Labai dažnai (80–99%)
Short stature	Labai dažnai (80–99%)
Small for gestational age	Kartais (5–29%)
Prenatal growth deficiency	Neužfiksuota

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
Premature birth	Dažnai (30–79%)
Fetal distress	Kartais (5–29%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Ichthyosis	Kartais (5–29%)
Small nail	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Abnormality of coagulation	Kartais (5–29%)

Abnormality of the breast

Trait	Kaip dažnai pasireiškia
Small nipples	Kartais (5–29%)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Primary adrenal insufficiency	Labai dažnai (80–99%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Respiratory function loss	Labai dažnai (80–99%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

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The Human Phenotype Ontology, release 2026-09-01: the traits linked to PEX2 and how often each is seen. Find out more at hpo.jax.org.

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