Female, age 3, with global developmental delay, failure to thrive, absent speech, and low muscle tone (hypotonia)
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Female, age 43, with itchy skin inflammation (psoriasiform dermatitis), blood clots in veins (thrombophlebitis), and head and joint pain (arthralgia)
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Male, age 14, with gross motor and language delay, borderline intellectual disability, and damage to the optic nerve (optic atrophy)
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Male, age 17, with intellectual disability, history of leukemia, heart abnormalities, and multiple abnormal bone and cartilage growths (osteochondromas)
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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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