Male, age 40, with mucopolysaccharidosis type IIIC (Sanfilippo C) caused by genetic changes in the HGSNAT gene
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Male, age 12, with overgrowth and developmental delay caused by a change in the GNAS gene
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Female, age 3 with pontocerebellar hypoplasia, type 2D caused by changes in the SEPSECS gene
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Male, age 4, with low muscle tone (hypotonia), seizures (epilepsy), and developmental delay
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Male, age 4, with absent speech, low muscle tone (hypotonia), developmental delay, small head size (microcephaly), and short stature
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Male, age 4, with a history of infantile spasms and an undiagnosed metabolic disorder (elevated alanine and lactate).
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Female, age 26, with muscle weakness and pain (myalgia), chronic fatigue, exercise intolerance, and severe episodes of weakness, dizziness, and paralysis.
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Female, age 17, with limb-girdle muscular dystrophy type 2Y caused by changes in the TOR1AIP1 gene.
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Male, age 5, with developmental delay and abnormal MRI findings (T2 hyperintensity of caudate nuclei and putamen bilaterally) caused by changes in the MECR gene
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Male, age 6, with developmental regression, hypotonia, difficulty controlling voluntary movements (limb and truncal ataxia), and lack of coordination caused by a change in the IRF2BPL gene
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