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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the SLC35A2 gene cause SLC35A2-CDG. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. During this process, complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids). Glycosylation modifies proteins and lipids so they can fully perform their functions. The enzyme produced from the SLC35A2 gene transfers a simple sugar called galactose to growing oligosaccharides at a particular step in the formation of the sugar chain. Once the correct number of sugar molecules are linked together, the oligosaccharide is attached to a protein or lipid.</p><p>SLC35A2 gene mutations lead to the production of an abnormal enzyme with reduced or no activity. Without a properly functioning enzyme, glycosylation cannot proceed normally, and oligosaccharides are incomplete. The signs and symptoms of SLC35A2-CDG are likely due to impaired glycosylation of proteins and fats that are needed for the normal function of various organs and tissues.</p><p>In some individuals with SLC35A2-CDG, glycosylation becomes normal later in childhood. The cause of this apparent correction is unknown. The restoration of glycosylation in these individuals, however, does not seem to improve the signs and symptoms of SLC35A2-CDG.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/slc35a2-congenital-disorder-of-glycosylation/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes SLC35A2-congenital disorder of glycosylation?"},{"bodyHtml":"<p>Individuals with SLC35A2-CDG typically develop signs and symptoms of the condition early in infancy. Seizures develop within the first months of life, usually involving uncontrollable muscle stiffening (infantile spasms) that can switch to shorter episodes of muscle jerks (epileptic spasms) later in childhood. In some individuals, the seizures do not improve with anti-epileptic medications. Individuals with SLC35A2-CDG often have abnormal brain function (encephalopathy), unusual facial features, skeletal abnormalities, and weak muscle tone (hypotonia) with poor head control. They also have severe intellectual disability and delayed development, often only being able to sit or crawl and never developing meaningful speech. Affected children may have feeding difficulties and fail to grow or gain weight at the expected rate. Some have vision or hearing problems.</p><p>In SLC35A2-CDG, medical imaging shows loss of tissue (atrophy) in parts of the brain called the cerebrum and cerebellum. These brain regions are necessary for thinking ability, hearing, vision, emotion, and coordinated movement. There can also be thinning of the tissue that connects the left and right halves of the brain (the corpus callosum) or a fluid-filled sac (cyst) on the membrane that surrounds the brain (arachnoid pouch).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/slc35a2-congenital-disorder-of-glycosylation\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"slc35a2-congenital-disorder-of-glycosylation","sourceDocuments":[{"name":"SLC35A2-congenital disorder of glycosylation","reviewed":"2018-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:02.905060+00:00","label":"Causes","pageSha256":"099ca76faf7b276803eb7f79b79e5de286660da31cd1b2d0bc34957698e21f92","sourceUrl":"https://medlineplus.gov/genetics/condition/slc35a2-congenital-disorder-of-glycosylation/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/slc35a2-congenital-disorder-of-glycosylation"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"SLC35A2-congenital disorder of glycosylation"},"schemaVersion":1}