ICD-10: E75.11

Goldberg-Shprintzen syndrome MEDNIK syndrome EAST syndrome Barber-Say syndrome Kufor-Rakeb syndrome Holzgreve-Wagner-Rehder Syndrome 3MC syndrome 1 3MC syndrome 2 3MC syndrome 3 Yunis-Varon syndrome WHIM syndrome 1 Nance-Horan syndrome EEC syndrome syndromic X-linked intellectual disability Lubs type syndromic X-linked intellectual disability 5 syndromic X-linked intellectual disability 17 syndromic X-linked intellectual disability 7 Wilson-Turner syndrome Miles-Carpenter syndrome syndromic X-linked intellectual disability 34 syndromic X-linked intellectual disability Abidi type Christianson syndrome X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome Griscelli syndrome type 3 Pierson syndrome mucolipidosis type IV Hirata disease monogenic disease obsolete genetic disorder obsolete peripheral dysostosis complement factor I deficiency mulibrey nanism Danon disease Frasier syndrome Farber lipogranulomatosis Donohue syndrome Gamstorp-Wohlfart syndrome obsolete Majewski syndrome obsolete Verma-Naumoff syndrome congenital disorder of glycosylation type I congenital disorder of glycosylation type II cranioectodermal dysplasia ABCD syndrome Aland Island eye disease anauxetic dysplasia 1 Baller-Gerold syndrome Bamforth-Lazarus syndrome Bart-Pumphrey syndrome bestrophinopathy Birk-Barel syndrome Bjornstad syndrome Borjeson-Forssman-Lehmann syndrome Bowen-Conradi syndrome Brody myopathy neonatal period electroclinical syndrome infancy electroclinical syndrome childhood electroclinical syndrome variable age at onset electroclinical syndrome AGAT deficiency cerebral folate receptor alpha deficiency ornithine translocase deficiency serine deficiency PHGDH deficiency PSAT deficiency PSPH deficiency Chanarin-Dorfman syndrome X-linked monogenic disease autosomal dominant disease autosomal genetic disease Qazi Markouizos syndrome X-linked myopathy with excessive autophagy adenylosuccinase lyase deficiency ARC syndrome midface dysplasia rapadilino syndrome schneckenbecken dysplasia obsolete Opitz-GBBB syndrome Ogden syndrome iridogoniodysgenesis syndrome peroxisomal acyl-CoA oxidase deficiency guanidinoacetate methyltransferase deficiency Kahrizi syndrome mucopolysaccharidosis IX urofacial syndrome pyrimidine metabolic disorder Perrault syndrome obsolete Jensen syndrome triosephosphate isomerase deficiency IMAGe syndrome janus kinase-3 deficiency recombinase activating gene 1 deficiency recombinase activating gene 2 deficiency reticular dysgenesis lambda 5 deficiency mu chain disease delta chain disease Kennedy's disease Cogan-Reese syndrome Warburg micro syndrome Van Maldergem syndrome MASA syndrome Smith-McCort dysplasia renal-hepatic-pancreatic dysplasia omodysplasia Ohdo syndrome Ohdo syndrome, SBBYS variant Rapp-Hodgkin syndrome CEDNIK syndrome ciliopathy acrorenal syndrome adenine phosphoribosyltransferase deficiency Stormorken syndrome Galloway-Mowat syndrome 1 Hennekam syndrome orofaciodigital syndrome IV orofaciodigital syndrome V orofaciodigital syndrome VII chromosome 16q22 deletion syndrome chromosome 17p13.1 deletion syndrome chromosome 2q31.2 deletion syndrome chromosome 3q29 microdeletion syndrome chromosome 6q24-q25 deletion syndrome chromosome 19p13.13 deletion syndrome chromosomal duplication syndrome chromosome 16p13.3 duplication syndrome salt and pepper syndrome