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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.
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Abnormality of the nervous system
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Abnormality of the palate | Very often (80–99%) |
| Depressed nasal bridge | Very often (80–99%) |
| Eye folds | Very often (80–99%) |
| Flat face | Very often (80–99%) |
| High forehead | Very often (80–99%) |
| Long, narrow head | Very often (80–99%) |
| Nasal tip, upturned | Very often (80–99%) |
| Upward slanting of the opening between the eyelids | Very often (80–99%) |
| Wide nasal bridge | Very often (80–99%) |
| Wider-than-typical soft spot of skull | Very often (80–99%) |
| Abnormally small head | Often (30–79%) |
| Big calvaria | Often (30–79%) |
| Flat back of skull | Often (30–79%) |
| Flattened bony protrusion above eyes | Often (30–79%) |
| High palate | Often (30–79%) |
| Little lower jaw | Often (30–79%) |
| Abnormality of the face | Sometimes (5–29%) |
| Abnormality of the tongue | Sometimes (5–29%) |
| Bell's palsy | Sometimes (5–29%) |
| Persistent open anterior fontanelle | Sometimes (5–29%) |
| Thickened skin folds of neck | Sometimes (5–29%) |
| Cleft palate | Not recorded |
| Fullness of eyelids | Not recorded |
| Round face | Not recorded |
| Wide fontanelles | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Rod-cone dystrophy | Always |
| Corneal opacity | Very often (80–99%) |
| Cross-eyed | Very often (80–99%) |
| Difficulties with night vision | Very often (80–99%) |
| Involuntary, rapid, rhythmic eye movements | Very often (80–99%) |
| Limited peripheral vision | Very often (80–99%) |
| Optic atrophy | Very often (80–99%) |
| Visual impairment | Very often (80–99%) |
| Abnormal chorioretinal morphology | Often (30–79%) |
| Abnormal retinal pigmentation | Often (30–79%) |
| Clouding of the lens of the eye | Often (30–79%) |
| Drooping upper eyelid | Often (30–79%) |
| Posterior embryotoxon | Often (30–79%) |
| Glaucoma | Sometimes (5–29%) |
| Pendular nystagmus | Sometimes (5–29%) |
| Speckled iris | Sometimes (5–29%) |
| Breakdown of light-sensitive cells in back of eye | Not recorded |
| Oculomotor apraxia | Not recorded |
| Opacification of the corneal stroma | Not recorded |
| Optic nerve dysplasia | Not recorded |
| Pigmentary retinopathy | Not recorded |
| Slow eye movements | Not recorded |
| Wide-set eyes | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Double-Jointed | Always |
| Abnormal skeletal development | Very often (80–99%) |
| Low muscle tone | Very often (80–99%) |
| Progressive muscle weakness | Very often (80–99%) |
| Severely decreased muscle tone | Very often (80–99%) |
| Speckled calcifications in end part of bone | Very often (80–99%) |
| Involuntary muscle stiffness, contraction, or spasm | Often (30–79%) |
| Abnormal shape of end part of bone | Sometimes (5–29%) |
| Difficulty running | Not recorded |
| Generalized decreased muscle tone | Not recorded |
| Low muscle tone, in neonatal onset | Not recorded |
| Permanent flexion of the finger or toe | Not recorded |
| Stippled chondral calcification | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Abnormality of the liver | Very often (80–99%) |
| Enlarged liver | Very often (80–99%) |
| Feeding difficulties in infancy | Very often (80–99%) |
| Jaundice | Very often (80–99%) |
| Liver failure | Very often (80–99%) |
| Malabsorption | Often (30–79%) |
| Pyloric stenosis | Often (30–79%) |
| Poor suck | Sometimes (5–29%) |
| Slowed or blocked flow of bile from liver | Sometimes (5–29%) |
| Decreased liver function | Not recorded |
| Intrahepatic biliary dysgenesis | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Tricuspid regurgitation | Often (30–79%) |
| Abnormal heart rate | Sometimes (5–29%) |
| An opening in the wall separating the top two chambers of the heart | Sometimes (5–29%) |
| Aortic regurgitation | Sometimes (5–29%) |
| Disease of the heart muscle | Sometimes (5–29%) |
| Heart murmur | Sometimes (5–29%) |
| Hole in heart wall separating two lower heart chambers | Sometimes (5–29%) |
| Mitral regurgitation | Sometimes (5–29%) |
| Enlarged liver and spleen | Not recorded |
| Increased spleen size | Not recorded |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Very long chain fatty acid accumulation | Always |
| Elevated levels of phytanic acid | Very often (80–99%) |
| Laboratory abnormality | Very often (80–99%) |
| Elevated circulating alanine aminotransferase concentration | Often (30–79%) |
| Elevated circulating aspartate aminotransferase concentration | Often (30–79%) |
| Increased circulating very long-chain fatty acid concentration | Often (30–79%) |
| Conjugated hyperbilirubinemia | Sometimes (5–29%) |
| Elevated alkaline phosphatase | Sometimes (5–29%) |
| Elevated gamma-glutamyltransferase level | Sometimes (5–29%) |
| Increased circulating lactate dehydrogenase concentration | Sometimes (5–29%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Enlarged clitoris | Often (30–79%) |
| Hydronephrosis | Often (30–79%) |
| Hypospadias | Often (30–79%) |
| Multicystic kidney dysplasia | Often (30–79%) |
| Undescended testes | Often (30–79%) |
| Polycystic kidney dysplasia | Sometimes (5–29%) |
| Cystic kidney disease | Not recorded |
| Renal cortical microcysts | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Bilateral single transverse palmar creases | Often (30–79%) |
| High-arched foot | Sometimes (5–29%) |
| Club feet | Not recorded |
| Front half of foot turns inward | Not recorded |
| Outward turned elbows | Not recorded |
| Single transverse palmar crease | Not recorded |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Abnormally shaped ears | Very often (80–99%) |
| Ears rotated toward back of head | Very often (80–99%) |
| Sensorineural hearing impairment | Very often (80–99%) |
| Hearing impairment | Often (30–79%) |
| Abnormal helix morphology | Not recorded |
| Low-set ears | Not recorded |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Faltering weight | Very often (80–99%) |
| Short stature | Very often (80–99%) |
| Small for gestational age | Sometimes (5–29%) |
| Prenatal growth deficiency | Not recorded |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Premature birth | Often (30–79%) |
| Fetal distress | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Ichthyosis | Sometimes (5–29%) |
| Small nail | Sometimes (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Abnormality of coagulation | Sometimes (5–29%) |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Small nipples | Sometimes (5–29%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Primary adrenal insufficiency | Very often (80–99%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Respiratory function loss | Very often (80–99%) |
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 PEX2 and how often each is seen. Find out more at hpo.jax.org.
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