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Traits
Traits linked to CDC6
cell division cycle 6
The Human Phenotype Ontology links 62 traits to CDC6, 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 | Kui sageli seda täheldatakse |
|---|---|
| Abnormally small head | Alati |
| Decreased size of maxilla | Alati |
| Full lips | Alati |
| Little lower jaw | Alati |
| Long philtrum | Alati |
| Prominent metopic ridge | Alati |
| Submucous cleft hard palate | Alati |
| Triangular face | Alati |
| Absence of lower jaw bones | Väga sageli (80–99%) |
| Narrow mouth | Väga sageli (80–99%) |
| Receding chin | Väga sageli (80–99%) |
| Deformity of the skull | Sageli (30–79%) |
| High, narrow palate | Sageli (30–79%) |
| Bifid uvula | Mõnikord (5–29%) |
| Cleft palate | Mõnikord (5–29%) |
Abnormality of the ear
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Low-set ears | Alati |
| Small earlobe | Alati |
| Small ears | Alati |
| Abnormal shape/structure of ear | Väga sageli (80–99%) |
| Abnormality of the outer ear | Väga sageli (80–99%) |
| Absent ear | Väga sageli (80–99%) |
| Absent ear canal | Väga sageli (80–99%) |
| Ears rotated toward back of head | Sageli (30–79%) |
| Hearing impairment | Mõnikord (5–29%) |
Abnormality of the genitourinary system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Short penis | Alati |
| Undescended testes | Alati |
| Enlarged clitoris | Sageli (30–79%) |
| Small clitoris | Sageli (30–79%) |
| Small labia majora | Sageli (30–79%) |
| Underdeveloped inner lips | Sageli (30–79%) |
| Epispadias | Mõnikord (5–29%) |
| Hypospadias | Mõnikord (5–29%) |
| Underdeveloped penis | Mõnikord (5–29%) |
Abnormality of limbs
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Absent kneecap | Alati |
| Elbow dislocation | Alati |
| Irregular thighbone end part | Alati |
| Small innermost thighbone end part | Alati |
| Curvature of little finger | Väga sageli (80–99%) |
| Permanent flexion of the finger | Sageli (30–79%) |
| Curvature of digit | Pole registreeritud |
Abnormality of the musculoskeletal system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Delayed bone maturation | Alati |
| Slender long bone | Alati |
| Abnormal shape of end part of bone | Väga sageli (80–99%) |
| Double-Jointed | Väga sageli (80–99%) |
| Abnormality of the ribs | Sageli (30–79%) |
| Absent collarbone | Sageli (30–79%) |
Growth abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Birth length less than 3rd percentile | Alati |
| Faltering weight | Alati |
| Prenatal growth deficiency | Alati |
| Short stature | Alati |
| Growth delay | Väga sageli (80–99%) |
| Severe short stature | Väga sageli (80–99%) |
Abnormality of the nervous system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Global developmental delay | Alati |
| Mild global developmental delay | Alati |
| Intellectual disability | Mõnikord (5–29%) |
| Specific learning disability | Mõnikord (5–29%) |
Abnormality of the respiratory system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Breathing difficulties | Sageli (30–79%) |
| Breathing difficulty | Sageli (30–79%) |
| Respiratory failure | Sageli (30–79%) |
Abnormality of the digestive system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Acid reflux | Alati |
| Feeding difficulties | Alati |
Abnormality of the breast
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Absent breast | 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
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to CDC6 and how often each is seen. Find out more at hpo.jax.org.
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