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Tunnused
Geeniga CCDC22 seotud tunnused
CCC complex scaffolding subunit CCDC22
Inimese fenotüübi ontoloogia seostab geeniga CCDC22 88 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
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Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Broad forehead | Alati |
| Broad neck | Alati |
| Low hairline at back of neck | Alati |
| Protruding tongue | Alati |
| Relatively large head | Alati |
| Short philtrum | Alati |
| Upward slanting of the opening between the eyelids | Alati |
| Wider-than-typical soft spot of skull | Alati |
| Abnormal cranial suture/fontanelle morphology | Väga sageli (80–99%) |
| Dandy-Walker malformation | Väga sageli (80–99%) |
| Frontal bossing | Väga sageli (80–99%) |
| Wide nasal bridge | Väga sageli (80–99%) |
| Big calvaria | Sageli (30–79%) |
| Cleft palate | Sageli (30–79%) |
| Depressed nasal bridge | Sageli (30–79%) |
| Downward slanting of the opening between the eyelids | Sageli (30–79%) |
| High, narrow palate | Sageli (30–79%) |
| Prominent back of the head | Sageli (30–79%) |
| Short nose | Sageli (30–79%) |
| Cleft of the mouth | Mõnikord (5–29%) |
| Facial hemangioma | Mõnikord (5–29%) |
| Little lower jaw | Mõnikord (5–29%) |
| Short neck | Mõnikord (5–29%) |
| Skin tag in front of the ear | Mõnikord (5–29%) |
| Beaked nose | Pole registreeritud |
| High palate | Pole registreeritud |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal mitral valve morphology | Sageli (30–79%) |
| Abnormal tricuspid valve morphology | Sageli (30–79%) |
| An opening in the wall separating the top two chambers of the heart | Sageli (30–79%) |
| Hole in center of heart | Sageli (30–79%) |
| Hole in heart wall separating two lower heart chambers | Sageli (30–79%) |
| Narrowing of aortic valve | Sageli (30–79%) |
| Narrowing of pulmonic valve | Sageli (30–79%) |
| Tetralogy of Fallot | Sageli (30–79%) |
| Underdeveloped left heart | Sageli (30–79%) |
| Underdeveloped lung artery | Mõnikord (5–29%) |
| Patent ductus arteriosus | Pole registreeritud |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Delayed ability to walk | Alati |
| Global developmental delay | Alati |
| Poor speech | Alati |
| Abnormal speech pattern | Väga sageli (80–99%) |
| Intellectual disability | Väga sageli (80–99%) |
| Absent/small cerebellum | Sageli (30–79%) |
| Too much cerebrospinal fluid in the brain | Sageli (30–79%) |
| Ventriculomegaly | Sageli (30–79%) |
| Abnormality of neuronal migration | Mõnikord (5–29%) |
| Fluid-filled sac located in membrane surrounding brain or spinal cord | Mõnikord (5–29%) |
| Small cerebellum | Mõnikord (5–29%) |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Broad big toe | Alati |
| Curvature of little finger | Alati |
| Overlapping toe | Alati |
| Permanent flexion of the finger | Alati |
| Prominent fingertip pads | Alati |
| Extra finger | Mõnikord (5–29%) |
| Finger syndactyly | Mõnikord (5–29%) |
| Short fingers or toes | Mõnikord (5–29%) |
| Short outermost finger bone | Pole registreeritud |
| Webbed fingers or toes | Pole registreeritud |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Low muscle tone | Alati |
| Permanent flexion of the finger or toe | Alati |
| Hunched back | Sageli (30–79%) |
| Scoliosis | Sageli (30–79%) |
| Abnormality of the hip bone | Mõnikord (5–29%) |
| Missing part of vertebrae | Mõnikord (5–29%) |
| Missing ribs | Mõnikord (5–29%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal anus position | Mõnikord (5–29%) |
| Absent anus | Mõnikord (5–29%) |
| Acid reflux | Mõnikord (5–29%) |
| Feeding difficulties in infancy | Mõnikord (5–29%) |
| Inguinal hernia | Mõnikord (5–29%) |
| Intestinal malrotation | Mõnikord (5–29%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Wide-set eyes | Alati |
| Glaucoma | Sageli (30–79%) |
| Birth defect that causes a hole in the innermost layer at the back of the eye | Mõnikord (5–29%) |
| Cat eye | Mõnikord (5–29%) |
| Optic atrophy | Mõnikord (5–29%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Undescended testes | Sageli (30–79%) |
| Hydronephrosis | Mõnikord (5–29%) |
| Hypospadias | Mõnikord (5–29%) |
| Underdeveloped penis | Mõnikord (5–29%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Growth delay as children | Alati |
| Short stature | Sageli (30–79%) |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Only one artery in umbilical cord instead of two | Mõnikord (5–29%) |
Abnormality of the breast
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Absent/small nipples | Mõnikord (5–29%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Low-set ears | Sageli (30–79%) |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Small adrenal glands | Mõnikord (5–29%) |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Recurrent respiratory infections | Sageli (30–79%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Small fingernail | Mõnikord (5–29%) |
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
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga CCDC22 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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