ICD-10: Q87

spondyloepimetaphyseal dysplasia, Pakistani type orotic aciduria Marshall-Smith syndrome Caroli disease pancreatic agenesis infantile cerebellar-retinal degeneration IMAGe syndrome spastic ataxia 3 akinetopsia Cogan-Reese syndrome acrofrontofacionasal dysostosis Adams-Oliver syndrome Warburg micro syndrome MASA syndrome Smith-McCort dysplasia sclerocornea pontocerebellar hypoplasia pontocerebellar hypoplasia type 1A pontocerebellar hypoplasia type 2E oculodentodigital dysplasia congenital secretory chloride diarrhea 1 dyschromatosis universalis hereditaria Rapp-Hodgkin syndrome mitochondrial complex V (ATP synthase) deficiency nuclear type 3 acrofacial dysostosis Cincinnati type Vici syndrome Galloway-Mowat syndrome 1 orofaciodigital syndrome III orofaciodigital syndrome VII acrofacial dysostosis Askin's tumor distal arthrogryposis atelosteogenesis Baller-Gerold syndrome Bart-Pumphrey syndrome Bjornstad syndrome Blau syndrome Boomerang dysplasia Borjeson-Forssman-Lehmann syndrome Dent disease methylmalonic aciduria and homocystinuria type cblF obsolete Opitz-GBBB syndrome Ogden syndrome multiple synostoses syndrome acrofacial dysostosis, Catania type chromosome 17p13.1 deletion syndrome chromosome 2p12-p11.2 deletion syndrome chromosome 3q13.31 deletion syndrome chromosome 5p13 duplication syndrome Desbuquois dysplasia fibrochondrogenesis Kabuki syndrome MEDNIK syndrome EAST syndrome Schimke immuno-osseous dysplasia Kufor-Rakeb syndrome lethal congenital contracture syndrome 1 Ritscher-Schinzel syndrome Usher syndrome white sponge nevus Donohue syndrome Alstrom syndrome Liddle syndrome Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease type 4 obsolete Saldino-Noonan syndrome Fukuyama congenital muscular dystrophy congenital disorder of glycosylation type I cranioectodermal dysplasia congenital generalized lipodystrophy ABCD syndrome triple-A syndrome Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome 2 3MC syndrome 1 3MC syndrome 3 WHIM syndrome 1 ulnar-mammary syndrome congenital chylothorax fetal encasement syndrome lethal congenital contracture syndrome 4 autosomal dominant Robinow syndrome 1 hypomyelinating leukodystrophy 12 syndromic X-linked intellectual disability 5 Prieto syndrome syndromic X-linked intellectual disability 7 syndromic X-linked intellectual disability 34 syndromic X-linked intellectual disability Abidi type syndromic X-linked intellectual disability Chudley-Schwartz type Norrie disease Leri-Weill dyschondrosteosis Potocki-Lupski syndrome