Unsupervised Phenotypic Stratification of 22q11.2 Deletion Syndrome for Improved Clinical Screening

Objective: 22q11.2 deletion syndrome (22q11DS) is the leading genetic cause of palatal anomalies, presenting a heterogeneous spectrum of clinical manifestations that complicates early diagnosis. No study has systematically investigated the co-occurrence of symptoms spanning cardiovascular, neuropsychiatric, craniofacial, immune, endocrine, renal, and familial domains within a single cohort using unsupervised learning methods for 22q11DS stratification. This study proposes a pipeline to identify subgroups and associated symptom patterns from binary clinical data, aiming to improve screening and

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