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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Double-Jointed	Întotdeauna
Abnormal skeletal development	Foarte des (80–99%)
Low muscle tone	Foarte des (80–99%)
Progressive muscle weakness	Foarte des (80–99%)
Severely decreased muscle tone	Foarte des (80–99%)
Speckled calcifications in end part of bone	Foarte des (80–99%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Abnormal shape of end part of bone	Uneori (5–29%)
Difficulty running	Neînregistrat
Generalized decreased muscle tone	Neînregistrat
Low muscle tone, in neonatal onset	Neînregistrat
Permanent flexion of the finger or toe	Neînregistrat
Stippled chondral calcification	Neînregistrat

Abnormality of the digestive system

Trait	Cât de frecvent apare
Abnormality of the liver	Foarte des (80–99%)
Enlarged liver	Foarte des (80–99%)
Feeding difficulties in infancy	Foarte des (80–99%)
Jaundice	Foarte des (80–99%)
Liver failure	Foarte des (80–99%)
Malabsorption	Des (30–79%)
Pyloric stenosis	Des (30–79%)
Poor suck	Uneori (5–29%)
Slowed or blocked flow of bile from liver	Uneori (5–29%)
Decreased liver function	Neînregistrat
Intrahepatic biliary dysgenesis	Neînregistrat

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Tricuspid regurgitation	Des (30–79%)
Abnormal heart rate	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Aortic regurgitation	Uneori (5–29%)
Disease of the heart muscle	Uneori (5–29%)
Heart murmur	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Mitral regurgitation	Uneori (5–29%)
Enlarged liver and spleen	Neînregistrat
Increased spleen size	Neînregistrat

Laboratory abnormality

Trait	Cât de frecvent apare
Very long chain fatty acid accumulation	Întotdeauna
Elevated levels of phytanic acid	Foarte des (80–99%)
Laboratory abnormality	Foarte des (80–99%)
Elevated circulating alanine aminotransferase concentration	Des (30–79%)
Elevated circulating aspartate aminotransferase concentration	Des (30–79%)
Increased circulating very long-chain fatty acid concentration	Des (30–79%)
Conjugated hyperbilirubinemia	Uneori (5–29%)
Elevated alkaline phosphatase	Uneori (5–29%)
Elevated gamma-glutamyltransferase level	Uneori (5–29%)
Increased circulating lactate dehydrogenase concentration	Uneori (5–29%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Enlarged clitoris	Des (30–79%)
Hydronephrosis	Des (30–79%)
Hypospadias	Des (30–79%)
Multicystic kidney dysplasia	Des (30–79%)
Undescended testes	Des (30–79%)
Polycystic kidney dysplasia	Uneori (5–29%)
Cystic kidney disease	Neînregistrat
Renal cortical microcysts	Neînregistrat

Abnormality of limbs

Trait	Cât de frecvent apare
Bilateral single transverse palmar creases	Des (30–79%)
High-arched foot	Uneori (5–29%)
Club feet	Neînregistrat
Front half of foot turns inward	Neînregistrat
Outward turned elbows	Neînregistrat
Single transverse palmar crease	Neînregistrat

Abnormality of the ear

Trait	Cât de frecvent apare
Abnormally shaped ears	Foarte des (80–99%)
Ears rotated toward back of head	Foarte des (80–99%)
Sensorineural hearing impairment	Foarte des (80–99%)
Hearing impairment	Des (30–79%)
Abnormal helix morphology	Neînregistrat
Low-set ears	Neînregistrat

Growth abnormality

Trait	Cât de frecvent apare
Faltering weight	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Small for gestational age	Uneori (5–29%)
Prenatal growth deficiency	Neînregistrat

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
Premature birth	Des (30–79%)
Fetal distress	Uneori (5–29%)

Abnormality of the integument

Trait	Cât de frecvent apare
Ichthyosis	Uneori (5–29%)
Small nail	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Abnormality of coagulation	Uneori (5–29%)

Abnormality of the breast

Trait	Cât de frecvent apare
Small nipples	Uneori (5–29%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Primary adrenal insufficiency	Foarte des (80–99%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Respiratory function loss	Foarte des (80–99%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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