Female, age 14, with primary ciliary dyskinesia caused by changes in the DNAH11 gene
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Male, age 18, with global developmental delay, autism, severe nearsightedness (myopia), different facial features, heart defects (atrial septal defect, ventricular septal defect) and a cleft palate caused by a change in the KMT2C gene
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Male, age 35, with triple A syndrome (achalasia (esophagus damage), Addison disease (adrenal gland disorder), and alacrima (inability to produce tears)
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Male, age 3, with low muscle tone (hypotonia), developmental delay, and increased weight caused by a change in the PRKAR1B gene
YouTube channel MIT Technology Review article
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Male, age 8, with macrosomia, a glabellar hemangioma, and learning difficulties caused by a change in the ASXL2 gene (Shashi-Pena syndrome)
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Male, age 20 months, with seizures, cataracts, small head size (microcephaly), and global developmental delay caused by a change in the NACC1 gene
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Female, age 8, with hypotonia, delayed brain myelination, and developmental delays caused by a change in the CACNA1A gene
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Female, age 2, with absent thyroid and inflammatory disease of the muscle (polymyositis)
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Male, age 10, with a heart defect, skeletal anomalies, absent thymus, and other features of DiGeorge syndrome caused by a change in the TBX2 gene
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