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Traits
Traits linked to CRKL
CRK like proto-oncogene, adaptor protein
The Human Phenotype Ontology links 60 traits to CRKL, 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 |
|---|---|
| Highly arched eyebrow | Very often (80–99%) |
| Smooth philtrum | Very often (80–99%) |
| Abnormally small head | Often (30–79%) |
| Pointed chin | Often (30–79%) |
| Thin red part of the upper lip | Often (30–79%) |
| Underdeveloped tissue around nostril | Often (30–79%) |
| Blockage of the rear opening of the nasal cavity | Sometimes (5–29%) |
| Branchial fistula | Sometimes (5–29%) |
| Cleft palate | Sometimes (5–29%) |
| Facial asymmetry | Sometimes (5–29%) |
| High, narrow palate | Sometimes (5–29%) |
| Long face | Sometimes (5–29%) |
| Narrow mouth | Sometimes (5–29%) |
| Narrow opening between the eyelids | Sometimes (5–29%) |
| Prominent nasal bridge | Sometimes (5–29%) |
| Tongue tied | Sometimes (5–29%) |
| Zygomatic flattening | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Curvature of little finger | Often (30–79%) |
| Dropped arches | Often (30–79%) |
| Bowing of the long bones | Sometimes (5–29%) |
| Coxa valga | Sometimes (5–29%) |
| Finger bends toward pinky | Sometimes (5–29%) |
| Fused toes | Sometimes (5–29%) |
| Gap between 1st and 2nd toes | Sometimes (5–29%) |
| Long slender fingers | Sometimes (5–29%) |
| Permanent flexion of the finger | Sometimes (5–29%) |
| Short outermost finger bone | Sometimes (5–29%) |
| Short palm | Sometimes (5–29%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Global developmental delay | Very often (80–99%) |
| Intellectual disability | Very often (80–99%) |
| Language impairment | Very often (80–99%) |
| Attention deficit | Sometimes (5–29%) |
| Depression | Sometimes (5–29%) |
| Epilepsy | Sometimes (5–29%) |
| Obsessive compulsive behavior | Sometimes (5–29%) |
| Tic disorder | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Truncus arteriosus | Often (30–79%) |
| An opening in the wall separating the top two chambers of the heart | Sometimes (5–29%) |
| Aortic regurgitation | Sometimes (5–29%) |
| Bulge in wall of large artery that carries blood away from heart | Sometimes (5–29%) |
| Hole in heart wall separating two lower heart chambers | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Inguinal hernia | Sometimes (5–29%) |
| Loss of bowel control | Sometimes (5–29%) |
| Pyloric stenosis | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Short stature | Very often (80–99%) |
| Prenatal growth deficiency | Often (30–79%) |
| Growth delay | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Abnormal earlobe | Often (30–79%) |
| Sensorineural hearing impairment | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Deeply set eye | Often (30–79%) |
| Oculomotor apraxia | Sometimes (5–29%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Decreased immune function | Sometimes (5–29%) |
| Recurrent respiratory infections | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Absent fingernail | Often (30–79%) |
| Absent toenail | Often (30–79%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Double-Jointed | Sometimes (5–29%) |
| Prominent swayback | Sometimes (5–29%) |
Abnormal tissue mass
| Trait | How often it is seen |
|---|---|
| Abnormal tissue mass | Often (30–79%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Premature birth | Very often (80–99%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Frequent urinary tract infections | Sometimes (5–29%) |
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 CRKL and how often each is seen. Find out more at hpo.jax.org.
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