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SRD5A3-CDG, previously called congenital disorder of glycosylation type Iq, is a genetic disorder passed down through families. It causes a variety of neurological and vision issues, as well as other symptoms. The specific symptoms and how severe they are differ significantly from person to person.
The signs and symptoms of SRD5A3-CDG usually appear in infancy or early childhood. Most people with this condition experience intellectual disability, vision impairment, distinctive facial characteristics, low muscle tone (hypotonia), and difficulties with coordination and balance (ataxia).
Vision problems associated with SRD5A3-CDG frequently involve involuntary eye movements (nystagmus), structural defects in the eye (coloboma), underdeveloped optic nerves (optic nerve hypoplasia), or significant vision loss that begins early in life (early-onset severe retinal dystrophy). Cataracts (clouding of the eye's lens) or glaucoma (increased eye pressure) may develop later in life.
Additional symptoms of SRD5A3-CDG can include skin rashes, abnormally small red blood cells (microcytic anemia), and liver dysfunction.
SRD5A3-CDG follows an autosomal recessive inheritance pattern. This means that a person must inherit two copies of the altered gene (one from each parent) to have the condition. The parents, who each carry only one copy of the altered gene, are usually unaffected and do not show any symptoms.
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