The participant’s complex medical history began shortly after birth. Doctors noted that he had different facial features such as an unusual head shape. He also seemed to tire easily and had poor weight gain. At 1 month of age, the participant’s parents were concerned about reduced muscle tone (hypotonia). He … read more
The participant has experienced involuntary movements of his arms, legs, and face continuously since birth (choreoathetosis). He also has low muscle tone, underactive reflexes, and abnormal eye movements with episodes of eye rolling. He has brain disease with seizures (epileptic encephalopathy) and a recent MRI of his brain showed brain … read more
The patient was born with a cleft lip, cleft palate, atrial septal defect, skeletal abnormalities, and absent thymus with severe T-cell deficiency. At 6 months, he underwent a thymus transplant and was diagnosed with complete DiGeorge syndrome. He later developed inflammation of the thyroid gland with hypothyroidism, followed by hyperthyroidism. … read more
