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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the ATRX gene cause alpha thalassemia X-linked intellectual disability syndrome. The ATRX gene provides instructions for making a protein that plays an essential role in normal development. The ATRX protein has many functions, such as helping to repair DNA damage and regulating the activity (expression) of other genes. Two of the genes that the ATRX protein helps regulate are HBA1 and HBA2, which are necessary for normal hemoglobin production.</p><p>Pathogenic variants in the ATRX gene lead to changes in the ATRX protein, which likely impair its ability to regulate gene expression. Reduced activity of the HBA1 and HBA2 genes causes alpha thalassemia. The lack of functioning ATRX proteins likely affects the expression of other genes as well, leading to the intellectual disabilities, distinctive facial features, and the other signs and symptoms of alpha thalassemia X-linked intellectual disability syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Alpha thalassemia X-linked intellectual disability syndrome?"},{"bodyHtml":"<p>Males with alpha thalassemia X-linked intellectual disability syndrome have intellectual disability and delayed development. Their speech is significantly delayed, and most never speak or sign more than a few words. Most affected children have weak muscle tone (hypotonia), which delays motor skills such as sitting, standing, and walking. Some people with this disorder are never able to walk independently.</p><p>Almost everyone with alpha thalassemia X-linked intellectual disability syndrome has distinctive facial features, including widely spaced eyes, a small nose with upturned nostrils, and low-set ears. The upper lip is shaped like an upside-down &quot;V,&quot; and the lower lip tends to be prominent. These facial characteristics are most apparent in early childhood. Over time, the facial features become coarser, including a flatter face with a shortened nose.</p><p>Most affected individuals have mild signs of a blood disorder called alpha thalassemia. This disorder reduces the production of hemoglobin, which is the protein in red blood cells that carries oxygen to cells throughout the body. A reduction in the amount of hemoglobin prevents enough oxygen from reaching the body&#x27;s tissues. Rarely, affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, and fatigue.</p><p>Additional features of alpha thalassemia X-linked intellectual disability syndrome include an unusually small head size (microcephaly), short stature, and skeletal abnormalities. Many affected individuals have problems with the digestive system, such as a backflow of stomach acids into the esophagus (gastroesophageal reflux) and chronic constipation. Genital abnormalities are also common; affected males may have undescended testes and the opening of the urethra on the underside of the penis (hypospadias). In more severe cases, the external genitalia do not look clearly male or female.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"alpha-thalassemia-x-linked-intellectual-disability-syndrome","sourceDocuments":[{"name":"Alpha thalassemia X-linked intellectual disability syndrome","reviewed":"2009-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:18.358103+00:00","label":"Causes","pageSha256":"fcf8f5f13520bb86ecaf7c326b5777deca57e8a26cefabb3932ffbba12c0350b","sourceUrl":"https://medlineplus.gov/genetics/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome"}],"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":"Alpha thalassemia X-linked intellectual disability syndrome"},"schemaVersion":1}