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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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Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of head or neck
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Broad head shape | Alati |
| Decreased volume of lip | Alati |
| Flattened bony protrusion above eyes | Alati |
| Hairy forehead | Alati |
| Long philtrum | Alati |
| Redundant neck skin | Alati |
| Short neck | Alati |
| Abnormal facial shape | Väga sageli (80–99%) |
| Flat face | Sageli (30–79%) |
| Flat nose | Sageli (30–79%) |
| Gum enlargement | Sageli (30–79%) |
| Nasal tip, upturned | Sageli (30–79%) |
| Prominent forehead | Sageli (30–79%) |
| Short nose | Sageli (30–79%) |
| Short opening between the eyelids | Sageli (30–79%) |
| Zygomatic flattening | Sageli (30–79%) |
| Abnormally small head | Mõnikord (5–29%) |
| Broad nasal tip | Mõnikord (5–29%) |
| Collapsed nostrils | Mõnikord (5–29%) |
| Dacryocystitis | Mõnikord (5–29%) |
| Dental crowding | Mõnikord (5–29%) |
| Depressed nasal bridge | Mõnikord (5–29%) |
| Eye folds | Mõnikord (5–29%) |
| Receding chin | Mõnikord (5–29%) |
| Skin tag in front of the ear | Mõnikord (5–29%) |
| Wide nasal bridge | Mõnikord (5–29%) |
| Frontal bossing | Pole registreeritud |
| High palate | Pole registreeritud |
Abnormality of the nervous system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Delayed ability to walk | Alati |
| Delayed CNS myelination | Alati |
| Delayed speech and language development | Alati |
| Global developmental delay | Alati |
| Severe global developmental delay | Alati |
| Short attention span | Alati |
| Sudden loss of muscle tone | Alati |
| Tethered cord | Alati |
| Intellectual disability | Väga sageli (80–99%) |
| Abnormal shape of brain | Sageli (30–79%) |
| Epilepsy | Sageli (30–79%) |
| Intellectual disability, mild | Sageli (30–79%) |
| Intellectual disability, severe | Sageli (30–79%) |
| Specific learning disability | Sageli (30–79%) |
| Typical absence seizure | Sageli (30–79%) |
| Abnormal conus terminalis morphology | Mõnikord (5–29%) |
| IQ between 34 and 49 | Mõnikord (5–29%) |
| Pauses in breathing while sleeping | Mõnikord (5–29%) |
| Seizure affecting one half of brain | Mõnikord (5–29%) |
| Thick corpus callosum | Mõnikord (5–29%) |
| Underdevelopment of part of brain called corpus callosum | Mõnikord (5–29%) |
Abnormality of the eye
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Deeply set eye | Alati |
| Drooping upper eyelid | Alati |
| Astigmatism | Sageli (30–79%) |
| Cross-eyed | Sageli (30–79%) |
| Wide-set eyes | Sageli (30–79%) |
| Blue outer white part of eyeball | Mõnikord (5–29%) |
| Notched pupil | Mõnikord (5–29%) |
| Optic disc coloboma | Mõnikord (5–29%) |
Abnormality of limbs
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Short long bone of foot | Alati |
| Short outermost finger bone | Alati |
| Short 4th long bone of foot | Väga sageli (80–99%) |
| Short fingers or toes | Väga sageli (80–99%) |
| Shortened long bone of hand | Sageli (30–79%) |
| Outward turned elbows | Mõnikord (5–29%) |
| Small kneecap | Mõnikord (5–29%) |
Abnormality of the genitourinary system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Frequent urinary tract infections | Alati |
| Small kidneys | Alati |
| Undescended testes | Sageli (30–79%) |
| Vesicoureteral reflux | Mõnikord (5–29%) |
Growth abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Faltering weight | Alati |
| Prenatal growth deficiency | Alati |
| Short stature | Alati |
| Obesity | Sageli (30–79%) |
Abnormality of the digestive system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Acid reflux | Alati |
| Feeding difficulties | Alati |
| Rectum protrudes through anus | Alati |
Abnormality of the integument
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Sparse hair | Alati |
| Spinal dimple | Alati |
| Soft skin | Mõnikord (5–29%) |
Abnormality of the musculoskeletal system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the skeletal system | Väga sageli (80–99%) |
| Decreased muscle tone in infant | Väga sageli (80–99%) |
| Low muscle tone | Väga sageli (80–99%) |
Abnormality of the endocrine system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Pseudohypoparathyroidism | Sageli (30–79%) |
| Abnormality of the endocrine system | Mõnikord (5–29%) |
Abnormality of prenatal development or birth
| Trait | Kui sageli seda täheldatakse |
|---|---|
| High levels of amniotic fluid | Alati |
Abnormality of the ear
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Sensorineural hearing impairment | Mõnikord (5–29%) |
Abnormality of the immune system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Eczema | Sageli (30–79%) |
Abnormality of the respiratory system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Softening of voice box tissue | Alati |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Allikas
- 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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