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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 more than 20 different genes can cause autosomal recessive primary microcephaly. The signs and symptoms that are seen in affected individuals may vary depending on the particular gene involved. Pathogenic variants in the ASPM gene are the most common cause of autosomal recessive primary microcephaly, accounting for 25 to 50 percent of all cases. Pathogenic variants in the WDR62 gene are the second most common cause. The remaining genes are each responsible for a small percentage of cases.</p><p>The ASPM and WDR62 genes provide instructions for making proteins that are involved in cell division. These proteins appear to be particularly important for the division of cells in the developing brain. The pathogenic variants in the ASPM and WDR62 genes that cause autosomal recessive primary microcephaly lead to the production of abnormal proteins. These proteins affect the cells of the developing brain, impairing their ability to divide. As a result, affected infants have fewer nerve cells (neurons) than normal and are born with unusually small brains. The smaller brain size contributes to the smaller head size and the intellectual disabilities seen in affected individuals.</p><p>Many of the other genes that are associated with autosomal recessive primary microcephaly are also thought to play important roles in early brain development, particularly in determining brain size. Studies suggest that the proteins that are produced from many of these genes help regulate cell division in the developing brain.</p><p>Some people with autosomal recessive primary microcephaly do not have one of the pathogenic variants that are known to cause this condition. In these individuals, the cause of the condition is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/autosomal-recessive-primary-microcephaly/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Autosomal recessive primary microcephaly?"},{"bodyHtml":"<p>Infants with MCPH have an unusually small head circumference compared to other infants of the same sex and age. Head circumference is the distance around the widest part of the head, measured by placing a measuring tape above the eyebrows and ears and around the back of the head. Affected infants&#x27; brain volume is also smaller than usual, although they usually do not have any major abnormalities in the structure of the brain. The head and brain grow throughout childhood and adolescence, but they continue to be much smaller than normal.</p><p>MCPH causes intellectual disability, which is typically mild to moderate and does not become more severe with age. Most affected individuals have delayed speech and language skills. Motor skills, such as sitting, standing, and walking, may also be mildly delayed.</p><p>People with MCPH usually have few or no other features associated with the condition. Some have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family. The condition typically does not affect any other major organ systems or cause other health problems.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/autosomal-recessive-primary-microcephaly\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"autosomal-recessive-primary-microcephaly","sourceDocuments":[{"name":"Autosomal recessive primary microcephaly","reviewed":"2011-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:42.786574+00:00","label":"Causes","pageSha256":"d4f5c2e1ea789cdb1a89f1f5b1f0ae961d6b97dc9d2c2a00dca71679c7d891ef","sourceUrl":"https://medlineplus.gov/genetics/condition/autosomal-recessive-primary-microcephaly/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/autosomal-recessive-primary-microcephaly"}],"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":"Autosomal recessive primary microcephaly"},"schemaVersion":1}