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Traits
Traits linked to HNRNPH2
heterogeneous nuclear ribonucleoprotein H2
The Human Phenotype Ontology links 50 traits to HNRNPH2, 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 |
|---|---|
| Global developmental delay | Always |
| Intellectual disability | Always |
| Anxiety | Often (30–79%) |
| Attention deficit | Often (30–79%) |
| Autism spectrum disorder | Often (30–79%) |
| Epilepsy | Often (30–79%) |
| Loss of developmental milestones | Often (30–79%) |
| Abnormal gait | Sometimes (5–29%) |
| Absent speech development | Sometimes (5–29%) |
| Aggressive behavior | Sometimes (5–29%) |
| Ataxia | Sometimes (5–29%) |
| Conspicuously happy disposition | Sometimes (5–29%) |
| Obsessive compulsive behavior | Sometimes (5–29%) |
| Recurrent hand flapping | Sometimes (5–29%) |
| Repetitive movements | Sometimes (5–29%) |
| Self-injurious behavior | Sometimes (5–29%) |
| Small cerebellum | Sometimes (5–29%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Development of small head that was not present at birth | Often (30–79%) |
| High palate | Often (30–79%) |
| Low hanging columella | Often (30–79%) |
| Short philtrum | Often (30–79%) |
| Underdeveloped tissue around nostril | Often (30–79%) |
| Almond shaped eyes | Sometimes (5–29%) |
| Drooling | Sometimes (5–29%) |
| Eye folds | Sometimes (5–29%) |
| Full lips | Sometimes (5–29%) |
| Little lower jaw | Sometimes (5–29%) |
| Midface retrusion | Sometimes (5–29%) |
| Short opening between the eyelids | Sometimes (5–29%) |
| Wide mouth | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Low muscle tone | Always |
| Double-Jointed | Sometimes (5–29%) |
| Pigeon chest | Sometimes (5–29%) |
| Prominent swayback | Sometimes (5–29%) |
| Scoliosis | Sometimes (5–29%) |
| Spasticity and rigidity of muscles | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Dropped arches | Often (30–79%) |
| Long slender fingers | Sometimes (5–29%) |
| Prominent fingertip pads | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Acid reflux | Often (30–79%) |
| Feeding difficulties | Often (30–79%) |
| Chronic constipation | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Abnormally close eyes | Sometimes (5–29%) |
| Outward facing eye ball | Sometimes (5–29%) |
| Wide-set eyes | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Mitral valve prolapse | Often (30–79%) |
| An opening in the wall separating the top two chambers of the heart | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Faltering weight | Often (30–79%) |
| Short stature | Often (30–79%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Curly hair | 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 HNRNPH2 and how often each is seen. Find out more at hpo.jax.org.
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