Female, age 11, with seizures, eye abnormalities (retinal coloboma, microphthalmia, strabismus) and severe global developmental delay
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Female, age 2, with global developmental delay, brain abnormalities, abnormal head movements, and trembling during precise movement (intention tremor)
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Male, age 5, with delayed gastric emptying (gastroparesis), episodes of low blood sugar and high ketones (ketotic hypoglycemia), kidney abnormalities, gait disturbance, and high blood pressure (hypertension)
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Male, age 4, with decreased muscle tone (hypotonia), delayed brain development (delayed myelination), visual impairment, and large head size (macrocephaly) caused by a change in ZNF331.
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Female, age 2, with seizures, profound global developmental delay, involuntary movements (chorea), and elevated serum pipecolic acid
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Male, age 18, with weak and brittle bones (osteoporosis), immune system abnormalities (antinuclear antibody positivity), and type 1 diabetes mellitus
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Female, age 18, with seizures, severe intellectual disability, regression, and abnormal brain findings
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Female, age 16, with intellectual disability, seizures, and brain and skeletal abnormalities (craniosynostosis, congenital hip and knee dislocation, hydrocephalus with an Arnold-Chiari type I malformation)
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Female, age 10, with Turner syndrome and an undiagnosed neurological condition
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Male, age 39, with involuntary muscle contractions (dystonia), difficulty speaking (dysphonia), and abnormal eye movements (saccadic smooth pursuit)
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