Female, age 3, with developmental delay, staring spells, low muscle tone (hypotonia), and uncontrolled eye movements (nystagmus)
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Female, age 5, with brain abnormalities, flow of urine from bladder to kidneys (vesicoureteral reflux), global developmental delay and atrial septal defect caused by a change in CHASERR (previously known as LINC01578) causing suspected overexpression of CHD2
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Female, age 1, with brain abnormalities (agenesis of the corpus callosum and arachnoid cyst) and chronic diarrhea caused by a change in the ARX gene (with severity impacted by her diagnosis of mosaic Turner syndrome)
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Male, age 12, with intellectual disability, seizures, brain abnormalities (ventriculomegaly, malrotation of bilateral hippocampi), and bulging, weakened wall of the aortic root (aortic root aneurysm)
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Female, age 26, with a history of global developmental delay, moderate intellectual disability, and autism caused by a change in the SPTBN1 gene
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Male, age 3, with global developmental delay, abnormal muscle tone and movement, and light pigmentation of the hair and skin (hypopigmentation)
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Male, age 7, with global developmental delay, hearing loss, gastrointestinal abnormalities, and absent saliva flow (xerostomia) caused by a change in the SLC12A2 gene
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Male, age 8, with global developmental delay, large head size (macrocephaly), low muscle tone (hypotonia), and seizures
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Female, age 14, with severe intellectual disability, language delay (receptive and expressive language delay), and mild dysmorphic features
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