Male, age 3, with heart abnormalities, global developmental delay, brain MRI abnormality, and seizures (infantile spasms) that are now well treated and controlled.
Read More
Male, age 11, with autism spectrum disorder, cognitive impairment, facial feature differences, and low muscle tone caused by a change in the MRTFB gene.
Read More
Male, age 39, with slurred speech, problems with coordination, and cognitive problems caused by a change in the ATP13A2 gene
Read More
Male, age 47, with progressive muscle weakness and wasting (skeletal muscle atrophy, muscular dystrophy).
Read More
Male, age 17, with prune belly syndrome and strokes due to disease of the arteries in the brain (arteriopathy) caused by a change in the MIR145 gene
Read More
Male, age 5, with global developmental delay, generalized low muscle tone, and recurrent respiratory infections
Read More
Male, age 71, with elevated creatinine kinase levels, breakdown of muscle tissue (rhabdomyolysis), and discoloration of urine (pigmenturia)
Read More
Female, age 5, with short stature, hearing loss, heart differences, gross motor delay, and low muscle tone
Read More
Male, age 4, with a history of neonatal abstinence syndrome, global developmental delay, brain malformation (Chiari I malformation), and uncoordinated gait (gait ataxia)
Read More
Male, age 5, with global developmental delay, coordination and movement problems (ataxia), and speech delays
Read More
