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Traits
Traits linked to ORC1
origin recognition complex subunit 1
The Human Phenotype Ontology links 94 traits to ORC1, 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 | How often it is seen |
|---|---|
| Abnormally small head | Very often (80–99%) |
| Absence of lower jaw bones | Very often (80–99%) |
| Little lower jaw | Very often (80–99%) |
| Narrow mouth | Very often (80–99%) |
| Receding chin | Very often (80–99%) |
| Decreased size of maxilla | Often (30–79%) |
| Deformity of the skull | Often (30–79%) |
| Full lips | Often (30–79%) |
| High, narrow palate | Often (30–79%) |
| Bifid uvula | Sometimes (5–29%) |
| Cleft palate | Sometimes (5–29%) |
| Submucous cleft hard palate | Sometimes (5–29%) |
| Decreased size of tooth | Not recorded |
| Frontal bossing | Not recorded |
| High palate | Not recorded |
| Long eyelashes | Not recorded |
| Narrow opening between the eyelids | Not recorded |
| Short opening between the eyelids | Not recorded |
| Small anterior fontanelle | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Delayed bone maturation | Always |
| Slender long bone | Always |
| Abnormal shape of end part of bone | Very often (80–99%) |
| Double-Jointed | Very often (80–99%) |
| Abnormality of the ribs | Often (30–79%) |
| Absent collarbone | Often (30–79%) |
| Abnormal shape of pelvic girdle bone | Not recorded |
| Abnormality of the rib cage | Not recorded |
| Absent bone maturation in sternum | Not recorded |
| Absent glenoid fossa | Not recorded |
| Flat glenoid fossa | Not recorded |
| Flexed joint that cannot be straightened | Not recorded |
| Hook-shaped collarbone | Not recorded |
| Missing part of vertebrae | Not recorded |
| Osteochondritis dissecans | Not recorded |
| Permanent flexion of the finger or toe | Not recorded |
| Pigeon chest | Not recorded |
| Short ribs | Not recorded |
| Thin ribs | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Absent kneecap | Always |
| Curvature of little finger | Very often (80–99%) |
| Back knee | Often (30–79%) |
| Permanent flexion of the finger | Often (30–79%) |
| Elbow dislocation | Sometimes (5–29%) |
| Absent/small kneecap | Not recorded |
| Club feet | Not recorded |
| Coxa valga | Not recorded |
| Joint contracture of the hand | Not recorded |
| Knock knees | Not recorded |
| Outward bow-leggedness | Not recorded |
| Short palm | Not recorded |
| Small hand | Not recorded |
| Webbed fingers | Not recorded |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Undescended testes | Very often (80–99%) |
| Enlarged clitoris | Often (30–79%) |
| Short penis | Often (30–79%) |
| Small clitoris | Often (30–79%) |
| Small labia majora | Often (30–79%) |
| Underdeveloped inner lips | Often (30–79%) |
| Epispadias | Sometimes (5–29%) |
| Hypospadias | Sometimes (5–29%) |
| Underdeveloped penis | Sometimes (5–29%) |
| Scrotum surrounds penis | Not recorded |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Low-set ears | Always |
| Small ears | Always |
| Abnormal shape/structure of ear | Very often (80–99%) |
| Abnormality of the outer ear | Very often (80–99%) |
| Absent ear | Very often (80–99%) |
| Absent ear canal | Very often (80–99%) |
| Ears rotated toward back of head | Often (30–79%) |
| Hearing impairment | Sometimes (5–29%) |
| Incomplete partition of the cochlea type II | Not recorded |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Faltering weight | Very often (80–99%) |
| Growth delay | Very often (80–99%) |
| Prenatal growth deficiency | Very often (80–99%) |
| Severe short stature | Very often (80–99%) |
| Birth length less than 3rd percentile | Not recorded |
| Small for gestational age | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Intellectual disability, mild | Often (30–79%) |
| Global developmental delay | Sometimes (5–29%) |
| Intellectual disability | Sometimes (5–29%) |
| Specific learning disability | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Breathing difficulties | Often (30–79%) |
| Breathing difficulty | Often (30–79%) |
| Emphysema | Often (30–79%) |
| Respiratory failure | Often (30–79%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Feeding difficulties in infancy | Always |
| Feeding difficulties | Very often (80–99%) |
| Acid reflux | Not recorded |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Underdeveloped breasts | Always |
| Absent breast | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Increased nail curvature | Not recorded |
| Thin skin | Not recorded |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Feet or buttocks of fetus positioned near opening of uterus | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Cross-eyed | Not recorded |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to ORC1 and how often each is seen. Find out more at hpo.jax.org.
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