POU3F1 and microtia: Individual 2750 has a small deletion (149.87 kb) that contains five RefSeq genes (FHL3, INPP5B, POU3F1, SF3A3, and UTP11); however, this specific individual seemed to have a more diverse phenotype (abnormal nipple morphology, anteverted nares, delayed speech and language development, downslanted palpebral fissures, epicanthus, episodic vomiting, feeding difficulties in infancy, high palate, hypertelorism, intellectual disability, long phalanx of finger, microcephaly, microtia, pectus carinatum, short stature, small nail) than our patient or any other patient with deletions in this region.