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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Female, age 2, with developmental delay, seizures, vision loss (cortical visual impairment) and a small head size (microcephaly)
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Female, age 24, with poor muscle coordination (ataxia), blurred vision (cataracts), intellectual disability, hearing loss (sensorineural), and small, discolored, and easily damaged teeth (amelogenesis imperfecta)
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Female, age 22, with short stature, joint contractures, tight and thickened skin, growth hormone deficiency, and restrictive lung disease
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Male, age 28, with a neurodegenerative condition involving weakness, seizures, tremors, & slurred speech
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Female, age 44, with a history of migraine headaches, sleep apnea, anxiety, myoclonic jerks, temperature intolerance, arthritis of the hands, and osteoarthritis of the spine
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