As an infant, the patient had low muscle tone (hypotonia) and was not meeting developmental milestones. She started wearing hearing aids at the age of 17 months due to hearing loss (sensorineural) and was diagnosed with cataracts at 2 years old. She had one seizure at 6 years old, but … read more
As an infant, the participant was very unhappy, often screaming and appearing uncomfortable. She met early developmental milestones, but had problems with coordination (ataxia) and displayed a tremor (action tremor) when reaching for items. Following an illness around 9 months of age, the participant appeared to regress in skills, which … read more
When the participant was an infant, he was found to have drooping eyelids (congenital, bilateral ptosis) and damage to the nerve that connects the eye to the brain (optic atrophy). Both of these have worsened over time. He was also delayed in meeting his milestones (global developmental delay) and did … read more
