The participant was born with absent shoulder muscles (congenital bilateral absence of deltoid muscles), bilaterally underdeveloped bicep tendons, umbilical and inguinal hernias, and undescended testes (bilateral cryptorchidism), some of which were fixed with surgeries. Developmental delay was noted at 6 months old with delayed milestones. He had an IEP in … read more
The participant’s seizures were first noticed when he was 2 days old. However, they may have started during the pregnancy since some movements were noticed in utero. These seizures were described as small jerking motions. He spent 5 days in the NICU and was discharged with seizure medication. He was … read more
Participant 206 was born at 36 weeks gestation. Delivery was induced due to a suspected enlarged bladder and fluid in one kidney (mild unilateral hydronephrosis). At birth, he was noted to be “floppy” (congenital myopathy). Within a week, the participant underwent a procedure called a vesicostomy to assist with draining … read more
