The participant was born full term. His mother smoked tobacco during pregnancy and used alcohol prior to knowledge about pregnancy but otherwise had an uncomplicated birth history. He was born with an undescended testicle (cryptorchidism) and had a surgical repair at 16 months old. His replaced testicle did not grow, … read more
Around age 60, the patient started having recurrent episodic fevers, with associated muscle/joint pain and a hive-like rash across his upper chest and abdomen that would come and go with the fevers. He had extensive evaluation for occult infection or malignancy that was unrevealing. He was trialed on numerous immunosuppressive … read more
The participant was late to achieve early milestones and said her first words at 2.5 years of age. She was identified to have severe intellectual disability and language delay, with receptive language better than expressive language. The participant currently has 10-20 words and has difficulty speaking (speech apraxia). In addition, … read more
