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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Male, age 4, with seizures (infantile spasms), abnormal MRI findings (delayed myelination, thinning of the corpus callosum), and developmental delay
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Female, age 8, with very low blood sugar (hypoglycemia), developmental delay, and birth defects (tetralogy of Fallot, Chiari I malformation, tethered cord)
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Male, age 5, with absolute iron deficiency anemia, behavioral problems, and recurrent infections
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Female, age 14, with overgrowth, increased androgen secretion at an early age (premature adrenarche), and heavy and prolonged menstrual periods (menorrhagia)
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Female, age 15, with weakness and stiffness in her limbs (spastic paraparesis), uncontrollable muscle contractions (dystonia), and slurred speech (dysarthria) caused by a change in the GNAO1 gene
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