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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Female, age 3, with global developmental delay, failure to thrive, absent speech, and low muscle tone (hypotonia)
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Female, age 43, with itchy skin inflammation (psoriasiform dermatitis), blood clots in veins (thrombophlebitis), and head and joint pain (arthralgia)
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Male, age 14, with gross motor and language delay, borderline intellectual disability, and damage to the optic nerve (optic atrophy)
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