HNF4A and hemangioma: In addition to the 15 probands who received genetic diagnoses with genome sequencing, 1 proband (CMC 23) received a clinical diagnosis of PHACE (posterior fossa malformations, hemangioma, arterial anomalies, cardiac defects, eye anomalies) syndrome67 at the time of enrollment after excluding the phenotypic features explained by a pathogenic HNF4A (OMIM 616026) variant.