De Barsy syndrome.
D003241:Consanguinity; D004547:Elastic Tissue; D005149:Facial Expression; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D009069:Movement Disorders / Q000235:genetics; D009123:Muscle Hypotonia / Q000235:genetics*; D012871:Skin Diseases / Q000235:genetics*; D013577:Syndrome