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Traits
Traits linked to PRMT7
protein arginine methyltransferase 7
The Human Phenotype Ontology links 87 traits to PRMT7, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
| Trait | Hvor ofte den forekommer |
|---|---|
| Broad head shape | Alltid |
| Decreased volume of lip | Alltid |
| Flattened bony protrusion above eyes | Alltid |
| Hairy forehead | Alltid |
| Long philtrum | Alltid |
| Redundant neck skin | Alltid |
| Short neck | Alltid |
| Abnormal facial shape | Svært ofte (80–99 %) |
| Flat face | Ofte (30–79 %) |
| Flat nose | Ofte (30–79 %) |
| Gum enlargement | Ofte (30–79 %) |
| Nasal tip, upturned | Ofte (30–79 %) |
| Prominent forehead | Ofte (30–79 %) |
| Short nose | Ofte (30–79 %) |
| Short opening between the eyelids | Ofte (30–79 %) |
| Zygomatic flattening | Ofte (30–79 %) |
| Abnormally small head | Noen ganger (5–29 %) |
| Broad nasal tip | Noen ganger (5–29 %) |
| Collapsed nostrils | Noen ganger (5–29 %) |
| Dacryocystitis | Noen ganger (5–29 %) |
| Dental crowding | Noen ganger (5–29 %) |
| Depressed nasal bridge | Noen ganger (5–29 %) |
| Eye folds | Noen ganger (5–29 %) |
| Receding chin | Noen ganger (5–29 %) |
| Skin tag in front of the ear | Noen ganger (5–29 %) |
| Wide nasal bridge | Noen ganger (5–29 %) |
| Frontal bossing | Ikke registrert |
| High palate | Ikke registrert |
Abnormality of the nervous system
| Trait | Hvor ofte den forekommer |
|---|---|
| Delayed ability to walk | Alltid |
| Delayed CNS myelination | Alltid |
| Delayed speech and language development | Alltid |
| Global developmental delay | Alltid |
| Severe global developmental delay | Alltid |
| Short attention span | Alltid |
| Sudden loss of muscle tone | Alltid |
| Tethered cord | Alltid |
| Intellectual disability | Svært ofte (80–99 %) |
| Abnormal shape of brain | Ofte (30–79 %) |
| Epilepsy | Ofte (30–79 %) |
| Intellectual disability, mild | Ofte (30–79 %) |
| Intellectual disability, severe | Ofte (30–79 %) |
| Specific learning disability | Ofte (30–79 %) |
| Typical absence seizure | Ofte (30–79 %) |
| Abnormal conus terminalis morphology | Noen ganger (5–29 %) |
| IQ between 34 and 49 | Noen ganger (5–29 %) |
| Pauses in breathing while sleeping | Noen ganger (5–29 %) |
| Seizure affecting one half of brain | Noen ganger (5–29 %) |
| Thick corpus callosum | Noen ganger (5–29 %) |
| Underdevelopment of part of brain called corpus callosum | Noen ganger (5–29 %) |
Abnormality of the eye
| Trait | Hvor ofte den forekommer |
|---|---|
| Deeply set eye | Alltid |
| Drooping upper eyelid | Alltid |
| Astigmatism | Ofte (30–79 %) |
| Cross-eyed | Ofte (30–79 %) |
| Wide-set eyes | Ofte (30–79 %) |
| Blue outer white part of eyeball | Noen ganger (5–29 %) |
| Notched pupil | Noen ganger (5–29 %) |
| Optic disc coloboma | Noen ganger (5–29 %) |
Abnormality of limbs
| Trait | Hvor ofte den forekommer |
|---|---|
| Short long bone of foot | Alltid |
| Short outermost finger bone | Alltid |
| Short 4th long bone of foot | Svært ofte (80–99 %) |
| Short fingers or toes | Svært ofte (80–99 %) |
| Shortened long bone of hand | Ofte (30–79 %) |
| Outward turned elbows | Noen ganger (5–29 %) |
| Small kneecap | Noen ganger (5–29 %) |
Abnormality of the genitourinary system
| Trait | Hvor ofte den forekommer |
|---|---|
| Frequent urinary tract infections | Alltid |
| Small kidneys | Alltid |
| Undescended testes | Ofte (30–79 %) |
| Vesicoureteral reflux | Noen ganger (5–29 %) |
Growth abnormality
| Trait | Hvor ofte den forekommer |
|---|---|
| Faltering weight | Alltid |
| Prenatal growth deficiency | Alltid |
| Short stature | Alltid |
| Obesity | Ofte (30–79 %) |
Abnormality of the digestive system
| Trait | Hvor ofte den forekommer |
|---|---|
| Acid reflux | Alltid |
| Feeding difficulties | Alltid |
| Rectum protrudes through anus | Alltid |
Abnormality of the integument
| Trait | Hvor ofte den forekommer |
|---|---|
| Sparse hair | Alltid |
| Spinal dimple | Alltid |
| Soft skin | Noen ganger (5–29 %) |
Abnormality of the musculoskeletal system
| Trait | Hvor ofte den forekommer |
|---|---|
| Abnormality of the skeletal system | Svært ofte (80–99 %) |
| Decreased muscle tone in infant | Svært ofte (80–99 %) |
| Low muscle tone | Svært ofte (80–99 %) |
Abnormality of the endocrine system
| Trait | Hvor ofte den forekommer |
|---|---|
| Pseudohypoparathyroidism | Ofte (30–79 %) |
| Abnormality of the endocrine system | Noen ganger (5–29 %) |
Abnormality of prenatal development or birth
| Trait | Hvor ofte den forekommer |
|---|---|
| High levels of amniotic fluid | Alltid |
Abnormality of the ear
| Trait | Hvor ofte den forekommer |
|---|---|
| Sensorineural hearing impairment | Noen ganger (5–29 %) |
Abnormality of the immune system
| Trait | Hvor ofte den forekommer |
|---|---|
| Eczema | Ofte (30–79 %) |
Abnormality of the respiratory system
| Trait | Hvor ofte den forekommer |
|---|---|
| Softening of voice box tissue | Alltid |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Slik er informasjonen samlet
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to PRMT7 and how often each is seen. Find out more at hpo.jax.org.
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