ICD-10: Q71.1

monogenic disease lacrimoauriculodentodigital syndrome 1 Gamstorp-Wohlfart syndrome obsolete SC phocomelia syndrome Charcot-Marie-Tooth disease type X Charcot-Marie-Tooth disease intermediate type obsolete Majewski syndrome muscular dystrophy-dystroglycanopathy type B1 acheiropody Allan-Herndon-Dudley syndrome anauxetic dysplasia 1 obsolete anonychia congenita distal arthrogryposis Baller-Gerold syndrome Bart-Pumphrey syndrome brachyolmia ARC syndrome Meckel syndrome obsolete Opitz-GBBB syndrome Kahrizi syndrome Perrault syndrome Koolen de Vries syndrome IMAGe syndrome Townes-Brocks syndrome Adams-Oliver syndrome Holzgreve-Wagner-Rehder Syndrome Ritscher-Schinzel syndrome 2 3MC syndrome 1 3MC syndrome 2 Yunis-Varon syndrome Nance-Horan syndrome lethal congenital contracture syndrome 3 Christianson syndrome Potocki-Lupski syndrome Baraitser-Winter syndrome Carpenter syndrome Smith-McCort dysplasia omodysplasia Ohdo syndrome, SBBYS variant acromelic frontonasal dysostosis Vici syndrome Galloway-Mowat syndrome 1 Hennekam syndrome orofaciodigital syndrome VIII acrofacial dysostosis acrofacial dysostosis Rodriguez type acrofacial dysostosis, Catania type chondrodysplasia Blomstrand type chromosome 16q22 deletion syndrome chromosome 18p deletion syndrome chromosome 3q29 microdeletion syndrome Cole-Carpenter syndrome Desbuquois dysplasia Goldberg-Shprintzen syndrome MEDNIK syndrome Barber-Say syndrome lethal congenital contracture syndrome 1 lethal congenital contracture syndrome 2 Ritscher-Schinzel syndrome