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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Male, age 16, with aromatic l-amino acid decarboxylase deficiency caused by changes in the DDC gene
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Female, age 10, with a tall and slender build (marfanoid habitus), seizures, IgA deficiency, and GI issues (gastrointestinal dysmotility)
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Female, age 10, with global developmental delay, severe motor impairment, involuntary muscle contractions (dystonia), increase in activated immune cells (recurrent hemophagocytic lymphohistiocytosis (HLH)), and variants in the PAPSS1 gene
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Male, age 5, with absent speech, intellectual disability, and uncoordinated walking (gait ataxia) caused by a genetic change in the ATP6V1A gene
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