{"orpha":724143,"name":"Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["WIPI2-related neuordevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-724143/","orphanet_url":"https://www.orpha.net/en/disease/detail/724143","names":{"fr":{"name":"Syndrome de retard global de développement-nystagmus-petite taille-hypoplasie du corps calleux-anomalies de la substance blanche","synonyms":["Trouble du neurodéveloppement associé à WIPI2"]},"de":{"name":"Globale Entwicklungsverzögerung-Nystagmus-Kleinwuchs-Corpus callosum-Hypoplasie-Anomalien der weißen Substanz-Syndrom","synonyms":["WIPI2-assoziierte neurologische Entwicklungsstörung"]},"es":{"name":"Síndrome de retraso global del desarrollo-nistagmo-talla baja-hipoplasia del cuerpo calloso-anomalías de la sustancia blanca","synonyms":["Trastorno del neurodesarrollo asociado al gen WIPI2"]},"it":{"name":"Sindrome ritardo dello sviluppo globale-nistagmo-bassa statura-ipoplasia del corpo calloso-anomalie della sostanza bianca","synonyms":["Malattia del neurosviluppo correlata a WIPI2"]},"nl":{"name":"Algehele ontwikkelingsachterstand - nystagmus - kleine gestalte - hypoplasie van corpus callosum - wittestofafwijkingen-syndroom","synonyms":["WIPI2-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome"},"pl":{"name":"Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome","synonyms":["WIPI2-related neuordevelopmental disorder"]},"cs":{"name":"Global developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndrome","synonyms":["WIPI2-related neuordevelopmental disorder"]}},"xrefs":[{"source":"OMIM","code":"618453","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"WIPI2","name":"WD repeat domain, phosphoinositide interacting 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30968111[PMID]","hgnc":"32225","ensembl":"ENSG00000157954","omim":"609225","loci":["7p22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}