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Genetics in Medicine
Results: The age of onset was variable. We categorized disorders based on the proportion of cases that presented in childhood: rare (n = 6), fewer than half the cases (n = 9), the majority of cases (n = 12), or unclear (n = 4). The age at initiation of intervention was based on the youngest age of onset reported, not evidence of the benefit of early intervention. For 15 disorders, guidelines were supported by a moderate quality of evidence for at least one recommendation. Only tuberousdoi:10.1038/s41436-018-0034-4 pmid:29875419 fatcat:fmdncnupuna6zk2tyzanadtua4