Female, age 12, with epileptic encephalopathy caused by a genetic change in the GABRB2 gene
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Male, age 2, with low muscle tone, muscle weakness, and chronic respiratory issues
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Male, age 23, with an undiagnosed, young adult-onset neurological disorder with cognitive decline and uncontrolled seizures
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Male, age 12, with developmental regression, absent speech, seizures, and distinct facial features
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Female, age 5, with global developmental delay, absent speech, sparse hair, seizures, brain abnormalities, and short stature caused by changes in the TBCK gene
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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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