FIGURE 1.

Primary Care Pedigree. At the PCPM clinic, genetic counselors meticulously compile comprehensive family histories, encompassing diverse medical conditions. This thorough examination enables healthcare providers to pinpoint specific areas warranting further genetic investigation. Analyzing the proband’s pedigree, supplied by the patient’s mother, reveals a notable familial prevalence of thyroid disease and heart conditions. However, there is a distinct absence of intellectual disability or neurodevelopmental disorders present in the family, hinting that there is a novel reason for the patient’s symptoms. Arrow indicates proband (patient). Abbreviations: ADHD, attention deficit hyperactivity disorder; ALZ, Alzheimer’s disease; ANX, anxiety; ASD, autism spectrum disorder; A&W, alive and well; HHT, hereditary hemorrhagic telangiectasia; HT, Hashimoto’s thyroiditis; HTN, hypertension; LD, learning difficulty; OA, osteoarthritis; OCD, obsessive-compulsive disorder; PANDAS, pediatric autoimmune neuropsychiatric disorders associated with recurrent streptococcal infections; PCOS, polycystic ovary syndrome; PVC, premature ventricular contraction; RA, rheumatoid arthritis; T2DM, Type II diabetes mellitus; TD, thyroid disease. Created with BioRender.com.