Acrofacial dysostosis with growth and mental retardation in three males, one with simultaneous Hermansky-Pudlak syndrome.
D000293:Adolescent; D000417:Albinism / Q000235:genetics; D001854:Bone Marrow Cells; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003394:Craniofacial Dysostosis / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics*; D006474:Hemorrhagic Disorders / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008264:Macrophages; D008297:Male; D010641:Phenotype; D013577:Syndrome