Male, age 7, with global developmental delay, abnormal muscle contractions (dystonia), repetitive behaviors (stereotype), and decreased tear secretion and sweating
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Male, age 5, with global developmental delay caused by a change in the MAPK8IP3 gene,
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Female, age 4, with seizures, global developmental delay, and underdeveloped optic nerve (optic nerve hypoplasia)
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Male, age 3, with global developmental delay, low muscle tone, and feeding difficulties
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Male, age 15 with arrhythmogenic right ventricular cardiomyopathy thought to be caused by genetic changes in the TAX1BP3 gene
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Female, age 36, with rapid, bilateral vocal cord spasms and muscle weakness caused by a change in the JAG1 gene
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Female, age 9, with spastic diplegia, low bone mineral density, and global developmental delay
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Female, age 18, with hearing and vision loss, bleeding disorder (Von Willebrand disease), and history of a tumor in infancy (sacrococcygeal germ cell tumor)
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Male, age 7, with intractable seizures, global developmental delay, absent speech, and low muscle tone (muscular hypotonia)
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