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Traits
Traits linked to RNF113A
ring finger protein 113A
The Human Phenotype Ontology links 116 traits to RNF113A, 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 |
|---|---|
| Big lower jaw | Always |
| Dandy-Walker malformation | Always |
| High forehead | Always |
| Progressively abnormally small cranium | Always |
| Sparse eyebrow | Always |
| Wide gaps between baby teeth | Always |
| Wide mouth | Always |
| 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%) |
| Deformity of the skull | Sometimes (5–29%) |
| Dental cavities | Sometimes (5–29%) |
| Dry eye syndrome | Sometimes (5–29%) |
| Everted eyelid | 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 nervous system
| Trait | How often it is seen |
|---|---|
| Delayed speech and language development | Always |
| Inability to coordinate movements when walking | Always |
| IQ less than 20 | Always |
| Small cerebellum | Always |
| Wide based walk | Always |
| 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%) |
| Intention tremor | 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%) |
| Generalized brain degeneration | Not recorded |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Brittle hair | Always |
| Premature aged appearance | Always |
| Reduced hair sulfur content | Always |
| Slow-growing hair | Always |
| Sparse hair | Always |
| Tiger tail banding | Always |
| Absent/small nails | Sometimes (5–29%) |
| Brittle nails | Sometimes (5–29%) |
| Dry skin | 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%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Breakdown of light-sensitive cells in back of eye | Often (30–79%) |
| Optic nerve hypoplasia | Often (30–79%) |
| Abnormally close eyes | Sometimes (5–29%) |
| Abnormally small eyeball on both sides | 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 musculoskeletal system
| Trait | How often it is seen |
|---|---|
| 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 genitourinary system
| Trait | How often it is seen |
|---|---|
| Decreased testicular size | Always |
| Short penis | Always |
| Gonadal dysgenesis | Sometimes (5–29%) |
| Undescended testes | Sometimes (5–29%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Recurrent infections | Always |
| Congenital exfoliative erythroderma | Sometimes (5–29%) |
| Eczema | Sometimes (5–29%) |
| Recurrent infections in bronchi and lungs | Sometimes (5–29%) |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Chronic decreased circulating IgG1 concentration | Often (30–79%) |
| Defective DNA repair after ultraviolet radiation damage | Sometimes (5–29%) |
| Panhypogammaglobulinemia | 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 cardiovascular system
| Trait | How often it is seen |
|---|---|
| Disease of the heart muscle | Sometimes (5–29%) |
| Hole in heart wall separating two lower heart chambers | Sometimes (5–29%) |
| Cutis marmorata | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Umbilical hernia | Sometimes (5–29%) |
| Chronic diarrhea | Not recorded |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Bilateral sensorineural hearing impairment | Sometimes (5–29%) |
| Prominent ear | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Prenatal growth deficiency | Always |
| Short stature | Always |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Clubbing of fingers and toes | Sometimes (5–29%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Abnormality of prenatal development or birth | Sometimes (5–29%) |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Low-set nipples | Sometimes (5–29%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Panhypopituitarism | Often (30–79%) |
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%) |
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 RNF113A and how often each is seen. Find out more at hpo.jax.org.
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