Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.
McDonald-McGinn
D M
DM
Emanuel
B S
BS
Zackai
E H
EH
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D013577:Syndrome