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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Female, age 15, with features of multiple pterygium syndrome, Escobar type, caused by changes in the TTN gene
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Male, age 8, with autism with facial dysmorphology caused by a change in the TRIP12 gene
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Female, age 5, with global developmental delay, rhythmic and repetitive movements (stereotypic movements), and difficulty feeding
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Male, age 4, with Helsmoortel-van der Aa syndrome caused by a change in the ADNP gene
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Male, age 11, with damage to the nerve that connects the eye to the brain (optic atrophy), drooping eyelids (congenital, bilateral, progressive ptosis), uncontrolled muscle movements (ataxia), and progressive fatigue
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Female, age 8, with sudden behavioral change, developmental regression, repetitive speech (echolalia), and brain abnormalities
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