ICD-10: E72.89

Ritscher-Schinzel syndrome Holzgreve-Wagner-Rehder Syndrome 3MC syndrome 1 3MC syndrome 2 Yunis-Varon syndrome Nance-Horan syndrome ethylmalonic encephalopathy dicarboxylic aminoaciduria Prieto syndrome Miles-Carpenter syndrome syndromic X-linked intellectual disability Abidi type Griscelli syndrome type 2 Pierson syndrome D-mannitol allergy philophthalmiasis obsolete peripheral dysostosis mulibrey nanism Danon disease Liddle syndrome Gamstorp-Wohlfart syndrome obsolete SC phocomelia syndrome obsolete Saldino-Noonan syndrome obsolete Majewski syndrome obsolete infantile onset spinocerebellar ataxia Walker-Warburg syndrome L-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria glycogen storage disease XV ABCD syndrome ADULT syndrome triple-A syndrome Aland Island eye disease Allan-Herndon-Dudley syndrome anauxetic dysplasia 1 Bart-Pumphrey syndrome biotin-responsive basal ganglia disease Bjornstad syndrome Boomerang dysplasia childhood electroclinical syndrome AGAT deficiency methylmalonic aciduria and homocystinuria type cblD serine deficiency PHGDH deficiency PSPH deficiency tyrosinemia type II tyrosinemia type III Chanarin-Dorfman syndrome methylmalonic aciduria and homocystinuria type cblE methylmalonic aciduria and homocystinuria type cblG congenital intrinsic factor deficiency X-linked monogenic disease Qazi Markouizos syndrome obsolete CLN3 disease adenylosuccinase lyase deficiency ARC syndrome midface dysplasia rapadilino syndrome schneckenbecken dysplasia Meckel syndrome cone dystrophy Kahrizi syndrome mucopolysaccharidosis IX urofacial syndrome Perrault syndrome Marshall-Smith syndrome Koolen de Vries syndrome IMAGe syndrome spastic ataxia 3 spastic ataxia 7 X-linked hereditary ataxia spinocerebellar ataxia type 37 obsolete artemis deficiency janus kinase-3 deficiency coronin-1A deficiency gluten allergy alpha chain disease Kennedy's disease GABA aminotransferase deficiency gamma-amino butyric acid metabolism disorder homocarnosinosis Baraitser-Winter syndrome MASA syndrome Simpson-Golabi-Behmel syndrome type 1 rippling muscle disease 2 pontocerebellar hypoplasia type 1A pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 2C pontocerebellar hypoplasia type 4 pontocerebellar hypoplasia type 5 pontocerebellar hypoplasia type 6 omodysplasia syndromic X-linked intellectual disability Rapp-Hodgkin syndrome mitochondrial complex V (ATP synthase) deficiency nuclear type 4 CEDNIK syndrome acrorenal syndrome adenine phosphoribosyltransferase deficiency Stormorken syndrome Vici syndrome orofaciodigital syndrome IV orofaciodigital syndrome V acrofacial dysostosis, Catania type chromosome 10q23 deletion syndrome chromosome 16p12.1 deletion syndrome chromosome 3q29 microdeletion syndrome Cole-Carpenter syndrome Goldberg-Shprintzen syndrome Perry syndrome Pitt-Hopkins syndrome crab allergy Barber-Say syndrome Kufor-Rakeb syndrome