Female, age 32, with short stature, abnormal calcification in the kidneys (nephrocalcinosis), progressive hearing impairment (sensorineural), and diabetes
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Male, age 6, with chronic high blood pressure (hypertension), recurrent respiratory infections, and low muscle tone (central hypotonia)
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Female, age 26, with recurrent and severe bacterial, viral, and fungal infections
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Female, age 8, with hereditary spastic paraplegia type 35 caused by a change in the FA2H gene
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Female, age 13, with recurrent skin rashes, immune system abnormalities (autoimmune hemolytic anemia, antiphospholipid antibody positivity), and muscle pain (myalgia)
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Female, age 11, with seizures, weekly episodes of confusion and hallucination, problems with coordination (ataxia), tremors, ulcerative colitis, pancreas inflammation (pancreatitis), and developmental delay caused by a change in the NBEA gene
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Male, age 7, with global developmental delay, lack of coordinated movement (dysmetria), toe-walking, right-sided weakness, right hearing impairment, and weak cartilage in the walls of the larynx (laryngomalacia)
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Male, age 8, with an neuromuscular disorder caused by a change in the LMNA gene
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