Type A1 brachydactyly, dwarfism, ptosis, mixed partial hearing loss, microcephaly, and mental retardation.
Tsukahara
M
M
Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
Azuno
Y
Y
Kajii
T
T
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