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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Male, age 62, with tall stature, a protruding area at the back of the head (occipital protuberance), atrial fibrillation, fragile and sagging skin, bowel diverticulitis, and chronic diarrhea
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Female, age 49, with a history of a splenic artery aneurysm and gallbladder inflammation (cholecystitis), joint and muscle pain and weakness, and memory impairment
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Female, age 10, with developmental delay, joint contractures, seizures, and multiple birth defects caused by a change in the ZC4H2 gene
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Male, age 4, with developmental delay, difficulty coordinating voluntary muscle movements (ataxia), autistic behaviors, and different facial features
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