Male, age 10, with arthrogryposis multiplex congenita causing decreased flexibility of his joints, low muscle tone (muscle hypotonia), and low bone density (osteopenia)
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Male, age 6, with developmental delay, difficulty swallowing (dysphagia), low muscle tone (hypotonia), and difficulty walking (progressive gait disturbance)
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Male, age 56, with weakness, difficulty walking, polyneuropathy, seizure-like events, and cognitive decline
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Male, age 11, with childhood-onset dystonia 28 caused by a change in the KMT2B gene
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Male, age 5, with developmental delay and regression, seizures, and difficulty controlling voluntary movements (ataxia)
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Male, age 21, months with weakness of the left side of the body (hemiparesis), seizures, and mast cell accumulation (mastocytosis)
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Male, age 33, with GDF11-associated multiple congenital anomalies and intellectual disability
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Female, age 14, with ataxia and progressive myoclonic epilepsy caused by a change in the ADGRV1 gene
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