Male, age 2, with visual impairment, repetitive and uncontrolled eye movements (nystagmus), low muscle tone (hypotonia), unsteady gait, and developmental delay
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Female, age 22, with a progressive neuromuscular condition involving weakness and restrictive lung disease
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Female, age 26, with itchy skin inflammation (atopic dermatitis), hyperactive immune system, asthma, very high immunoglobulin E (IgE) levels, and swollen lymph nodes (lymphadenopathy)
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Male, age 8, with feeding issues, delayed bone age, chronic ear infections, and sleep apnea caused by a change in the SRCAP gene (Floating Harbor syndrome)
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Female, age 14, with autism spectrum disorder, intellectual disability, self-injurious behaviors, seizures, muscle weakness, a large head size (macrocephaly), and a brain tumor (astrocytoma)
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Female, age 25, with early onset hearing loss, frequent fevers and flares of pain with blurred vision and vomiting, systemic itching, delayed gastric emptying (gastroparesis), recurrent infections, and reduced sweating caused by a change in the MPEG1 gene
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Female, age 49, with muscle weakness, balance problems, clumsiness, muscle twitching (fasciculations) and cramps, abnormal heart rhythm (second-degree AV block), episodes of high potassium (hyperkalemia), restrictive lung disease, double vision (diplopia), and seizures
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Female, age 2, with congenital disorder of glycosylation (type IIm) caused by a change in SLC35A2 gene
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Male, age 55, with wheezing, chronic sinus infections (sinusitis), nasal polyps, chronic fatigue, a bulging, weakened wall of the aortic root (ascending aortic root aneurysm), and neuropathy caused by changes in the IFIH1 gene
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Male, age 7, with a complex neuromuscular condition involving vocal cord paralysis, feeding issues, and reduced nerve responses
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