Autosomal dominantly inherited cutis aplasia congenita, ear malformations, right-sided facial paresis, and dermal sinuses.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D004431:Ear, External / Q000002:abnormalities*; D005158:Facial Paralysis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009436:Neural Tube Defects / Q000235:genetics*; D010375:Pedigree; D012535:Scalp / Q000002:abnormalities*; D013577:Syndrome