Traits

Traits linked to DNA2

DNA replication helicase/nuclease 2

The Human Phenotype Ontology links 94 traits to DNA2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Delayed bone maturation	Întotdeauna
Flattened vertebrae	Întotdeauna
Abnormal formation of the hip	Des (30–79%)
Cone-shaped end part of bone	Des (30–79%)
Double-Jointed	Des (30–79%)
Generalized decreased muscle tone	Des (30–79%)
Gowers sign	Des (30–79%)
Kyphoscoliosis	Des (30–79%)
Mitochondrial myopathy	Des (30–79%)
Multiple joint contractures	Des (30–79%)
Muscle spasm	Des (30–79%)
Muscle tissue disease	Des (30–79%)
Osteopenia	Des (30–79%)
Prominent swayback	Des (30–79%)
Difficulty walking up stairs	Uneori (5–29%)
Diffuse skeletal muscle wasting	Uneori (5–29%)
Muscle weakness	Uneori (5–29%)
Scoliosis	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Abnormally small head	Întotdeauna
Beaked nose	Întotdeauna
Depressed nasal bridge	Întotdeauna
Frontal bossing	Întotdeauna
Little lower jaw	Întotdeauna
Sparse eyebrow	Întotdeauna
Sparse scalp hair	Întotdeauna
Deformity of the skull	Foarte des (80–99%)
Narrow face	Foarte des (80–99%)
Abnormal tooth enamel	Des (30–79%)
Decreased facial expression	Des (30–79%)
Decreased number of teeth	Des (30–79%)
Downward slanting of the opening between the eyelids	Des (30–79%)
Delayed eruption of teeth	Uneori (5–29%)
Empty sella turcica	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Clouding of the lens of the eye	Întotdeauna
Decreased clarity of vision	Întotdeauna
Progressive external ophthalmoplegia	Întotdeauna
Abnormally small eyeball	Des (30–79%)
Congenital drooping upper eyelid	Des (30–79%)
Corneal opacity	Des (30–79%)
Deeply set eye	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Glaucoma	Des (30–79%)
Optic atrophy	Uneori (5–29%)
Peters anomaly	Uneori (5–29%)
Weakness of muscles controlling eye movement	Uneori (5–29%)

Abnormality of the nervous system

Trait	Cât de frecvent apare
Abnormal gait	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Cognitive impairment	Foarte des (80–99%)
Mild global developmental delay	Foarte des (80–99%)
Depression	Des (30–79%)
Obstructive sleep apnea	Des (30–79%)
Pressure on spinal cord	Des (30–79%)
Falls	Uneori (5–29%)
Hippocampal malrotation	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Flared wide portion of long bone	Întotdeauna
Shortened long bone of hand	Întotdeauna
Curvature of little finger	Foarte des (80–99%)
Gap between 1st and 2nd toes	Foarte des (80–99%)
Limb-girdle muscle weakness	Foarte des (80–99%)
Pelvic girdle muscle weakness	Des (30–79%)
Short finger bones	Des (30–79%)
Weak shoulder muscles	Uneori (5–29%)

Growth abnormality

Trait	Cât de frecvent apare
Decreased body weight	Întotdeauna
Prenatal growth deficiency	Întotdeauna
Short stature	Întotdeauna
Small for gestational age	Foarte des (80–99%)
Wasting syndrome	Foarte des (80–99%)
Slender build	Des (30–79%)

Abnormality of the integument

Trait	Cât de frecvent apare
Photosensitive skin	Întotdeauna
Poikiloderma	Întotdeauna
Poor nail formation	Foarte des (80–99%)
Prematurely aged appearance	Foarte des (80–99%)
Abnormal blistering of the skin	Des (30–79%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Decreased circulating insulin-like growth factor 1 concentration	Întotdeauna
Reduced circulating growth hormone concentration	Întotdeauna
Underactive thyroid	Foarte des (80–99%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Short penis	Întotdeauna
Abnormal kidney location	Des (30–79%)
Undescended testes	Des (30–79%)

Abnormal cellular phenotype

Trait	Cât de frecvent apare
Multiple mitochondrial DNA deletions	Întotdeauna
Decreased mitochondrial number	Des (30–79%)

Abnormality of the ear

Trait	Cât de frecvent apare
Abnormal earlobe	Des (30–79%)
Absent earlobe	Des (30–79%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Exertional breathlessness	Des (30–79%)
Breathing difficulty	Uneori (5–29%)

Constitutional symptom

Trait	Cât de frecvent apare
Muscle ache	Des (30–79%)
Decreased ability to exercise	Neînregistrat

Laboratory abnormality

Trait	Cât de frecvent apare
Elevated creatine kinase after exercise	Des (30–79%)
Elevated blood creatine phosphokinase	Uneori (5–29%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
Less than 10 fetal movements in 12 hours	Des (30–79%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Patent foramen ovale	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

The Human Phenotype Ontology, release 2026-09-01: the traits linked to DNA2 and how often each is seen. Find out more at hpo.jax.org.

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