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Traits
Traits linked to DBR1
debranching RNA lariats 1
The Human Phenotype Ontology links 115 traits to DBR1, 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 |
|---|---|
| Encephalopathy | Often (30–79%) |
| Epilepsy | Often (30–79%) |
| Increased reflexes | Often (30–79%) |
| Abnormal pyramidal sign | Sometimes (5–29%) |
| Cerebral dysmyelination | Sometimes (5–29%) |
| Decrease in size of the outer layer of the brain due to loss of brain cells | Sometimes (5–29%) |
| Decreased reflex response | Sometimes (5–29%) |
| Difficulty articulating speech | Sometimes (5–29%) |
| Diffuse cerebellar atrophy | Sometimes (5–29%) |
| Generalized hyperreflexia | Sometimes (5–29%) |
| Generalized-onset seizure | Sometimes (5–29%) |
| Global developmental delay | Sometimes (5–29%) |
| Inability to coordinate movements when walking | Sometimes (5–29%) |
| Intention tremor | Sometimes (5–29%) |
| Mild global developmental delay | Sometimes (5–29%) |
| Paraplegia/paraparesis | Sometimes (5–29%) |
| Partial agenesis of the corpus callosum | Sometimes (5–29%) |
| Peripheral neuropathy | Sometimes (5–29%) |
| Periventricular leukomalacia | Sometimes (5–29%) |
| Poor social interactions | Sometimes (5–29%) |
| Ventriculomegaly | Sometimes (5–29%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Everted eyelid | Often (30–79%) |
| Long philtrum | Often (30–79%) |
| Outward turned lips | Often (30–79%) |
| Abnormally small head | Sometimes (5–29%) |
| Absence of scalp hair | Sometimes (5–29%) |
| Bird-like facial appearance | Sometimes (5–29%) |
| Coarse facial features | Sometimes (5–29%) |
| Decreased depth of eye sockets | Sometimes (5–29%) |
| Decreased size of nasal bridge | Sometimes (5–29%) |
| Deformity of the skull | Sometimes (5–29%) |
| Dental cavities | Sometimes (5–29%) |
| Downward slanting of the opening between the eyelids | Sometimes (5–29%) |
| Dry eye syndrome | Sometimes (5–29%) |
| Eye folds | Sometimes (5–29%) |
| High, narrow palate | Sometimes (5–29%) |
| Hypoplasia of mandible relative to maxilla | Sometimes (5–29%) |
| Pink eye | Sometimes (5–29%) |
| Receding chin | Sometimes (5–29%) |
| Sparse scalp hair | Sometimes (5–29%) |
| Thin dental enamel | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Retinopathy of prematurity | Often (30–79%) |
| Abnormally close eyes | Sometimes (5–29%) |
| Abnormally small eyeball on both sides | Sometimes (5–29%) |
| Anterior polar cataract | Sometimes (5–29%) |
| Astigmatism | Sometimes (5–29%) |
| Close sighted | Sometimes (5–29%) |
| Clouding of the lens of the eye at birth | Sometimes (5–29%) |
| Cornea of eye less than 10mm in diameter | Sometimes (5–29%) |
| Cross-eyed | Sometimes (5–29%) |
| Extreme sensitivity of the eyes to light | Sometimes (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Sometimes (5–29%) |
| Inward turning cross eyed | Sometimes (5–29%) |
| Macular degeneration | Sometimes (5–29%) |
| Retina degeneration | Sometimes (5–29%) |
| Wide-set eyes | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Dry skin | Always |
| Congenital nonbullous ichthyosiform erythroderma | Often (30–79%) |
| Absent/small nails | Sometimes (5–29%) |
| Brittle hair | Sometimes (5–29%) |
| Brittle nails | Sometimes (5–29%) |
| Grooved nails | Sometimes (5–29%) |
| Ichthyosis | Sometimes (5–29%) |
| Longitudinal splitting of nail | Sometimes (5–29%) |
| Numerous pigmented freckles | Sometimes (5–29%) |
| Photosensitive skin | Sometimes (5–29%) |
| Poor fingernail formation | Sometimes (5–29%) |
| Prematurely aged appearance | Sometimes (5–29%) |
| Spoon-shaped nails | Sometimes (5–29%) |
| Squamous cell carcinoma | Sometimes (5–29%) |
| Tiger tail banding | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Low solidness and mass of the bones | Often (30–79%) |
| Absent fat below the skin | Sometimes (5–29%) |
| Delayed bone maturation | Sometimes (5–29%) |
| Generalized decreased muscle tone | Sometimes (5–29%) |
| Increased bone mineral density | Sometimes (5–29%) |
| Involuntary muscle stiffness, contraction, or spasm | Sometimes (5–29%) |
| Joint dislocation | Sometimes (5–29%) |
| Multiple joint contractures | Sometimes (5–29%) |
| Osteopenia | Sometimes (5–29%) |
| Spasticity and rigidity of muscles | Sometimes (5–29%) |
| Thoracic kyphosis | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Redness of skin or mucous membrane | Always |
| An opening in the wall separating the top two chambers of the heart | Often (30–79%) |
| Disease of the heart muscle | Sometimes (5–29%) |
| Hole in heart wall separating two lower heart chambers | Sometimes (5–29%) |
| Left ventricular hypertrophy | Sometimes (5–29%) |
| Left-to-right shunt | Sometimes (5–29%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Viral encephalitis | Always |
| Congenital exfoliative erythroderma | Sometimes (5–29%) |
| Eczema | Sometimes (5–29%) |
| Recurrent infections | Sometimes (5–29%) |
| Recurrent infections in bronchi and lungs | Sometimes (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Increased mean corpuscular hemoglobin concentration | Sometimes (5–29%) |
| Low blood neutrophil count | Sometimes (5–29%) |
| Low number of red blood cells or hemoglobin | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Bilateral sensorineural hearing impairment | Sometimes (5–29%) |
| Prominent ear | Sometimes (5–29%) |
| Small ears | Sometimes (5–29%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Dilatation of the renal pelvis | Sometimes (5–29%) |
| Gonadal dysgenesis | Sometimes (5–29%) |
| Undescended testes | Sometimes (5–29%) |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Defective DNA repair after ultraviolet radiation damage | Sometimes (5–29%) |
| Panhypogammaglobulinemia | Sometimes (5–29%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Moderate to late preterm birth | Always |
| Abnormality of prenatal development or birth | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Feeding difficulties | Always |
| Umbilical hernia | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Growth delay as children | Always |
| Prenatal growth deficiency | Always |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Clubbing of fingers and toes | Sometimes (5–29%) |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Low-set nipples | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Bronchoconstriction | Sometimes (5–29%) |
Abnormality of the voice
| Trait | How often it is seen |
|---|---|
| Inability to produce voice sounds | Sometimes (5–29%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Brain swelling | Often (30–79%) |
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 DBR1 and how often each is seen. Find out more at hpo.jax.org.
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