Table S1. Loss of function and de novo missense variants in SHANK3 reported previously. Table S2. Clinical features of individuals with pathogenic or likely pathogenic SHANK3 variants reported in the
In this dataset we provide monogenic, rare diseases (OMIM identifier) with a known genetic cause (HGNC, Ensembl) supplemented with manually extracted provenance of both the disease and the discovery o
Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) is a rare, life-threatening, pediatric disorder of unknown etiology, whose diagnosis is made dif
