Traits

Traits linked to RNASEH2A

ribonuclease H2 subunit A

The Human Phenotype Ontology links 85 traits to RNASEH2A, by body system: features seen in people with one of the gene's rare conditions.

RNASEH2A

Abnormality of the nervous system

Trait	How often it is seen
Arrhinencephaly	Very often (80–99%)
Cavity within brain	Very often (80–99%)
Global developmental delay	Very often (80–99%)
IQ less than 20	Very often (80–99%)
Multifocal cerebral white matter abnormalities	Very often (80–99%)
Abnormal gait	Often (30–79%)
Abnormality of extrapyramidal motor function	Often (30–79%)
Brain degeneration	Often (30–79%)
Chronic CSF lymphocytosis	Often (30–79%)
Dystonia	Often (30–79%)
Epilepsy	Often (30–79%)
Irritability	Often (30–79%)
Leukodystrophy	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Loss of speech	Often (30–79%)
Paralysis or weakness of one side of body	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Abnormal pyramidal sign	Sometimes (5–29%)
Demyelinating peripheral neuropathy	Sometimes (5–29%)
Headache	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Degeneration of the striatum	Rarely (1–4%)
CSF lymphocytic pleiocytosis	Not recorded
Degeneration of cerebellum	Not recorded
Degeneration of cerebrum	Not recorded
Severe global developmental delay	Not recorded
Too much cerebrospinal fluid in the brain	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Very often (80–99%)
Spasticity and rigidity of muscles	Very often (80–99%)
Abnormal deposits of calcium in the brain	Often (30–79%)
Extrapyramidal muscular rigidity	Often (30–79%)
Low muscle tone in trunk	Often (30–79%)
Arthritis	Sometimes (5–29%)
Multiple joint contractures	Sometimes (5–29%)
Muscle stiffness	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Spastic paraparesis	Sometimes (5–29%)
Spastic tetraplegia	Sometimes (5–29%)
Enchondroma	Rarely (1–4%)
Loss of fat tissue in localized area	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Often (30–79%)
Cutis marmorata	Sometimes (5–29%)
Enlarged heart	Sometimes (5–29%)
Raynaud phenomenon	Sometimes (5–29%)
Bulge in wall of large artery that carries blood away from heart	Rarely (1–4%)
Calcification of the aorta	Rarely (1–4%)
Enlarged and thickened heart muscle	Rarely (1–4%)
Moyamoya phenomenon	Rarely (1–4%)
Increased spleen size	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Beaked nose	Often (30–79%)
Cleft eyelid	Often (30–79%)
Asymmetry of the posterior head	Sometimes (5–29%)
Progressively abnormally small cranium	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormality of eye movement	Sometimes (5–29%)
Developmental glaucoma	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Glaucoma	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Autoimmunity	Often (30–79%)
Chilblains	Often (30–79%)
Increased circulating interferon-gamma concentration	Often (30–79%)
Inflammation of fat tissue	Sometimes (5–29%)
Muscle inflammation	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Neonatal alloimmune thrombocytopenia	Sometimes (5–29%)
Chronic lymphatic leukemia	Rarely (1–4%)
Low blood cell count	Not recorded
Low platelet count	Not recorded

Laboratory abnormality

Trait	How often it is seen
High liver enzymes	Often (30–79%)
Increased CSF interferon alpha	Often (30–79%)
Unexplained fevers	Often (30–79%)
Diabetes mellitus	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Prolonged yellowing of skin in newborn	Sometimes (5–29%)
Enlarged liver	Not recorded
Feeding difficulties	Not recorded

Abnormality of the integument

Trait	How often it is seen
Dry skin	Often (30–79%)
Persistent blue color of hands or feet	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Often (30–79%)
Prenatal growth deficiency	Not recorded

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Short penis	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Not recorded

Abnormality of the voice

Trait	How often it is seen
Hoarse voice	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 RNASEH2A and how often each is seen. Find out more at hpo.jax.org.

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