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Traits
Traits linked to HNRNPC
heterogeneous nuclear ribonucleoprotein C
The Human Phenotype Ontology links 31 traits to HNRNPC, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Delayed motor skills | Always |
| Delayed speech and language development | Always |
| Difficulty sleeping | Always |
| Global developmental delay | Always |
| Intellectual disability, mild | Always |
| Intellectual disability, severe | Always |
| IQ between 34 and 49 | Always |
| Delayed fine motor development | Very often (80–99%) |
| Delayed ability to walk | Often (30–79%) |
| Happy demeanor | Often (30–79%) |
| Poor concentration | Often (30–79%) |
| Absent speech development | Sometimes (5–29%) |
| Delayed CNS myelination | Sometimes (5–29%) |
| Grand mal seizures | Sometimes (5–29%) |
| Motor tics | Sometimes (5–29%) |
| Obstructive sleep apnea | Sometimes (5–29%) |
| Typical absence seizure | Sometimes (5–29%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Smooth philtrum | Often (30–79%) |
| Thin red part of the upper lip | Often (30–79%) |
| Abnormally small head | Sometimes (5–29%) |
| Broad head shape | Sometimes (5–29%) |
| Downward slanting of the opening between the eyelids | Sometimes (5–29%) |
| Prominent nose | Sometimes (5–29%) |
| Round face | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Deeply set eye | Often (30–79%) |
| Abnormally close eyes | Sometimes (5–29%) |
| Wide-set eyes | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Low muscle tone | Often (30–79%) |
| Spasticity and rigidity of muscles | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Feeding difficulties | Often (30–79%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Prenatal growth deficiency | 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 HNRNPC and how often each is seen. Find out more at hpo.jax.org.
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