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Traits
Traits linked to NRCAM
neuronal cell adhesion molecule
The Human Phenotype Ontology links 58 traits to NRCAM, 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 | Often (30–79%) |
| Little lower jaw | Often (30–79%) |
| Asymmetry of the posterior head | Sometimes (5–29%) |
| Coarse facial features | Sometimes (5–29%) |
| Deep philtrum | Sometimes (5–29%) |
| Depressed nasal bridge | Sometimes (5–29%) |
| Exaggerated cupid's bow | Sometimes (5–29%) |
| Fullness around the eyes | Sometimes (5–29%) |
| High palate | Sometimes (5–29%) |
| Long eyelashes | Sometimes (5–29%) |
| Long face | Sometimes (5–29%) |
| Medial flaring of the eyebrow | Sometimes (5–29%) |
| Narrow forehead | Sometimes (5–29%) |
| Short chin | Sometimes (5–29%) |
| Short nose | Sometimes (5–29%) |
| Tented mouth | Sometimes (5–29%) |
| Thick eyebrow | Sometimes (5–29%) |
| Upward slanting of the opening between the eyelids | Sometimes (5–29%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Cerebral palsy | Often (30–79%) |
| Global developmental delay | Often (30–79%) |
| Intellectual disability | Often (30–79%) |
| Irritability | Often (30–79%) |
| Motor delay | Often (30–79%) |
| Self-injurious behavior | Often (30–79%) |
| Aggressive behavior | Sometimes (5–29%) |
| Ataxia | Sometimes (5–29%) |
| Colpocephaly | Sometimes (5–29%) |
| Delayed CNS myelination | Sometimes (5–29%) |
| Demyelinating peripheral neuropathy | Sometimes (5–29%) |
| Fluid-filled sac located in membrane surrounding brain or spinal cord | Sometimes (5–29%) |
| Jaw hyperreflexia | Sometimes (5–29%) |
| Periventricular heterotopia | Sometimes (5–29%) |
| Periventricular leukomalacia | Sometimes (5–29%) |
| Thin corpus callosum | Sometimes (5–29%) |
| Too much cerebrospinal fluid in the brain | Sometimes (5–29%) |
| Ventriculomegaly | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Clouding of the lens of the eye | Sometimes (5–29%) |
| Cross-eyed | Sometimes (5–29%) |
| Optic atrophy | Sometimes (5–29%) |
| Retinal detachment | Sometimes (5–29%) |
| Wide-set eyes | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| High-arched foot | Often (30–79%) |
| Acetabular dysplasia | Sometimes (5–29%) |
| Coxa valga | Sometimes (5–29%) |
| Hammertoe | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Abnormal formation of the hip | Often (30–79%) |
| Low muscle tone | Often (30–79%) |
| Scoliosis | Often (30–79%) |
| Distal arthrogryposis | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Faltering weight | Sometimes (5–29%) |
| Prenatal growth deficiency | Sometimes (5–29%) |
| Short stature | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Acid reflux | Sometimes (5–29%) |
| Gastrostomy tube feeding in infancy | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Ears rotated toward back of head | Sometimes (5–29%) |
| Hearing impairment | Sometimes (5–29%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| High levels of amniotic fluid | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Softening of voice box tissue | 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 NRCAM and how often each is seen. Find out more at hpo.jax.org.
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