The participant noticed that he was weaker than his peers in childhood. At age 23, he noticed difficulty getting up from a squatting position and climbing stairs, and began experiencing progressive muscle weakness involving muscles in his arms, legs, face, and eyes. He also developed heart muscle disease (dilated cardiomyopathy) … read more
After birth, the patient was found to be in respiratory distress. He had low levels of red blood cells (anemia), yellowing of the skin (jaundice caused by hyperbilirubinemia), and heartburn (gastroesophageal reflux). This required hospitalization in the NICU for 72 days. Over time, the patient was noticed to have delayed … read more
The participant was born at 37 weeks weighing 3lbs 13oz. He spent 19 days in the NICU due to feeding difficulties. He began to experience recurrent upper and lower respiratory tract infections at 6 months and was later identified to have abnormal movement of the cilia (abnormal ciliary motility), upper … read more
