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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