Female, age 17, with global developmental delay, seizures, problems with coordination (ataxia), and involuntary muscle contractions (dystonia)
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Female, age 6, with carnitine deficiency, thyroid disease, episodes of brain disease (episodic encephalopathy), problems with coordination (ataxia), and low blood sugar (hypoglycemia)
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Male, age 4, with global developmental delay thought to be caused by a genetic change in the FBXO11 gene
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Male, age 24, with seizures, growth hormone deficiency, low levels of pituitary hormones (panhypopituitarism), and low levels of blood cells (pancytopenia)
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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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