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
Read More
Male, age 35, with triple A syndrome (achalasia (esophagus damage), Addison disease (adrenal gland disorder), and alacrima (inability to produce tears)
Read More
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
Read More
Male, age 8, with macrosomia, a glabellar hemangioma, and learning difficulties caused by a change in the ASXL2 gene (Shashi-Pena syndrome)
Read More
Male, age 20 months, with seizures, cataracts, small head size (microcephaly), and global developmental delay caused by a change in the NACC1 gene
Read More
Female, age 8, with hypotonia, delayed brain myelination, and developmental delays caused by a change in the CACNA1A gene
Read More
Female, age 2, with absent thyroid and inflammatory disease of the muscle (polymyositis)
Read More
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
Read More
