we report a 16 year old boy with the abnormal karyotype 46 , xy , del ( 2 ) ( q32.2q33.1 ) who has mental retardation , microcephaly , epilepsy , craniofacial dysmorphism , distinctive scalloped skin pigmentation , and normal levels of isocitrate dehydrogenase .
C0025958
microcephaly
C0376634
craniofacial dysmorphism