ICD-10: O28.5

Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome 2 3MC syndrome 1 permanent neonatal diabetes mellitus lethal congenital contracture syndrome 3 syndromic X-linked intellectual disability 17 syndromic X-linked intellectual disability Siderius type Wilson-Turner syndrome syndromic X-linked intellectual disability 14 Griscelli syndrome type 2 Leri-Weill dyschondrosteosis osteoporosis-pseudoglioma syndrome autosomal dominant pseudohypoaldosteronism type 1 X-linked dominant hypophosphatemic rickets Antley-Bixler syndrome with disordered steroidogenesis campomelic dysplasia Gamstorp-Wohlfart syndrome obsolete Saldino-Noonan syndrome obsolete Majewski syndrome Walker-Warburg syndrome Allan-Herndon-Dudley syndrome anauxetic dysplasia 1 Bjornstad syndrome Boomerang dysplasia Borjeson-Forssman-Lehmann syndrome X-linked monogenic disease Y-linked monogenic disease autosomal genetic disease ARC syndrome Kahrizi syndrome Koolen de Vries syndrome Townes-Brocks syndrome acrofrontofacionasal dysostosis Warburg micro syndrome Van Maldergem syndrome pontocerebellar hypoplasia type 1A pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 6 Ohdo syndrome, SBBYS variant Meier-Gorlin syndrome syndromic X-linked intellectual disability Vici syndrome orofaciodigital syndrome III orofaciodigital syndrome IV acrofacial dysostosis orofaciodigital syndrome XI orofaciodigital syndrome IX acrofacial dysostosis, Catania type chromosomal deletion syndrome chromosome 14q11-q22 deletion syndrome chromosome 15q25 deletion syndrome chromosome 17p13.1 deletion syndrome chromosome 18p deletion syndrome chromosome 1p36 deletion syndrome chromosome 2p12-p11.2 deletion syndrome chromosome 3q13.31 deletion syndrome chromosome 4q21 deletion syndrome chromosome 6q11-q14 deletion syndrome chromosome 19p13.13 deletion syndrome chromosomal duplication syndrome chromosome 17q12 duplication syndrome chromosome 1q21.1 duplication syndrome chromosome 22q11.2 microduplication syndrome chromosome 22q13 duplication syndrome chromosome 2q31.1 duplication syndrome Goldberg-Shprintzen syndrome Mowat-Wilson syndrome Pitt-Hopkins syndrome Schimke immuno-osseous dysplasia lethal congenital contracture syndrome 1 lethal congenital contracture syndrome 2