title: Type A1 brachydactyly, dwarfism, ptosis, mixed partial hearing loss, microcephaly, and mental retardation.
authors.affiliation: Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Tsukahara
authors.forename: Y
authors.initials: Y
authors.lastname: Azuno
authors.forename: T
authors.initials: T
authors.lastname: Kajii
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D001763:Blepharoptosis; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging; D003241:Consanguinity; D004392:Dwarfism; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D006312:Hearing Loss, Bilateral; D006801:Humans; D008607:Intellectual Disability; D008831:Microcephaly; D011859:Radiography; D013577:Syndrome