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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 det ses |
|---|---|
| Broad head shape | Altid |
| Decreased volume of lip | Altid |
| Flattened bony protrusion above eyes | Altid |
| Hairy forehead | Altid |
| Long philtrum | Altid |
| Redundant neck skin | Altid |
| Short neck | Altid |
| Abnormal facial shape | Meget 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 | Nogle gange (5–29 %) |
| Broad nasal tip | Nogle gange (5–29 %) |
| Collapsed nostrils | Nogle gange (5–29 %) |
| Dacryocystitis | Nogle gange (5–29 %) |
| Dental crowding | Nogle gange (5–29 %) |
| Depressed nasal bridge | Nogle gange (5–29 %) |
| Eye folds | Nogle gange (5–29 %) |
| Receding chin | Nogle gange (5–29 %) |
| Skin tag in front of the ear | Nogle gange (5–29 %) |
| Wide nasal bridge | Nogle gange (5–29 %) |
| Frontal bossing | Ikke registreret |
| High palate | Ikke registreret |
Abnormality of the nervous system
| Trait | Hvor ofte det ses |
|---|---|
| Delayed ability to walk | Altid |
| Delayed CNS myelination | Altid |
| Delayed speech and language development | Altid |
| Global developmental delay | Altid |
| Severe global developmental delay | Altid |
| Short attention span | Altid |
| Sudden loss of muscle tone | Altid |
| Tethered cord | Altid |
| Intellectual disability | Meget 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 | Nogle gange (5–29 %) |
| IQ between 34 and 49 | Nogle gange (5–29 %) |
| Pauses in breathing while sleeping | Nogle gange (5–29 %) |
| Seizure affecting one half of brain | Nogle gange (5–29 %) |
| Thick corpus callosum | Nogle gange (5–29 %) |
| Underdevelopment of part of brain called corpus callosum | Nogle gange (5–29 %) |
Abnormality of the eye
| Trait | Hvor ofte det ses |
|---|---|
| Deeply set eye | Altid |
| Drooping upper eyelid | Altid |
| Astigmatism | Ofte (30–79 %) |
| Cross-eyed | Ofte (30–79 %) |
| Wide-set eyes | Ofte (30–79 %) |
| Blue outer white part of eyeball | Nogle gange (5–29 %) |
| Notched pupil | Nogle gange (5–29 %) |
| Optic disc coloboma | Nogle gange (5–29 %) |
Abnormality of limbs
| Trait | Hvor ofte det ses |
|---|---|
| Short long bone of foot | Altid |
| Short outermost finger bone | Altid |
| Short 4th long bone of foot | Meget ofte (80–99 %) |
| Short fingers or toes | Meget ofte (80–99 %) |
| Shortened long bone of hand | Ofte (30–79 %) |
| Outward turned elbows | Nogle gange (5–29 %) |
| Small kneecap | Nogle gange (5–29 %) |
Abnormality of the genitourinary system
| Trait | Hvor ofte det ses |
|---|---|
| Frequent urinary tract infections | Altid |
| Small kidneys | Altid |
| Undescended testes | Ofte (30–79 %) |
| Vesicoureteral reflux | Nogle gange (5–29 %) |
Growth abnormality
| Trait | Hvor ofte det ses |
|---|---|
| Faltering weight | Altid |
| Prenatal growth deficiency | Altid |
| Short stature | Altid |
| Obesity | Ofte (30–79 %) |
Abnormality of the digestive system
| Trait | Hvor ofte det ses |
|---|---|
| Acid reflux | Altid |
| Feeding difficulties | Altid |
| Rectum protrudes through anus | Altid |
Abnormality of the integument
| Trait | Hvor ofte det ses |
|---|---|
| Sparse hair | Altid |
| Spinal dimple | Altid |
| Soft skin | Nogle gange (5–29 %) |
Abnormality of the musculoskeletal system
| Trait | Hvor ofte det ses |
|---|---|
| Abnormality of the skeletal system | Meget ofte (80–99 %) |
| Decreased muscle tone in infant | Meget ofte (80–99 %) |
| Low muscle tone | Meget ofte (80–99 %) |
Abnormality of the endocrine system
| Trait | Hvor ofte det ses |
|---|---|
| Pseudohypoparathyroidism | Ofte (30–79 %) |
| Abnormality of the endocrine system | Nogle gange (5–29 %) |
Abnormality of prenatal development or birth
| Trait | Hvor ofte det ses |
|---|---|
| High levels of amniotic fluid | Altid |
Abnormality of the ear
| Trait | Hvor ofte det ses |
|---|---|
| Sensorineural hearing impairment | Nogle gange (5–29 %) |
Abnormality of the immune system
| Trait | Hvor ofte det ses |
|---|---|
| Eczema | Ofte (30–79 %) |
Abnormality of the respiratory system
| Trait | Hvor ofte det ses |
|---|---|
| Softening of voice box tissue | Altid |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Hvor oplysningerne kommer fra
- 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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