The participant was first noticed to have short stature when she was 6 years old. Around 7-8 years old, she was found to have an abnormal eye structure (abnormality of the cornea morphology and corneal endothelium), hearing impairment (sensorineural), and a hand tremor. Her hearing impairment and tremor have worsened … read more
The participant was born after a pregnancy complicated by insulin-controlled gestational diabetes, reduced fetal movement, and polyhydramnios. Soon after birth, she was noted to have low muscle tone (hypotonia) and dysmorphic features. She struggled with feeding from birth and was notably irritable as a baby. At 5 months old, she … read more
The participant spent the first 19 days after birth in the neonatal intensive care unit (NICU) because of respiratory distress, feeding issues, low muscle tone (hypotonia) and slow heart rate (bradycardia). She was also found to have a heart defect (atrial septal defect). An initial MRI showed almost complete lack … read more
