Posters & Publications
Patient Clinical Information: The patient is a 13 year-old female reported to have tuberous sclerosis and seizures, slowly progressive loss of milestones over the last year, increased agitation and fevers, and decreased oral intake.
Patient Clinical Information: The proband is a 6 year-old female with a primary clinical phenotype of intellectual disability. Additionally, it was noted that the proband has proximal and distal weakness, muscle atrophy, and severe hypotonia.
Patient Clinical Information: The proband is a 6-year-old female with developmental delays including speech and motor delays, subtle dysmorphic features including close set eyes, low set ears and wide space between toes, decreased IQ and staring episodes concerning for seizures.
Patient Clinical Information: The proband is an 18-month-old female presenting with developmental delays and multiple dysmorphic features. Previous testing identified two known pathogenic variants linked to acyl CoA dehydrogenase deficiency.