{"orpha":724148,"name":"Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["El-Hattab-Alkuraya Syndrome","WDR45B-related neuordevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-724148/","orphanet_url":"https://www.orpha.net/en/disease/detail/724148","names":{"fr":{"name":"Syndrome de retard global de développement-épilepsie à début précoce réfractaire-quadriplégie spastique-microcéphalie-atrophie cérébrale","synonyms":["Trouble du neurodéveloppement associé à WDR45B","Syndrome El-Hattab-Alkuraya"]},"de":{"name":"Globale Entwicklungsverzögerung-früh beginnende therapieresistente Epilepsie-spastische Tetraplegie-Mikrozephalie-zerebrale Atrophie-Syndrom","synonyms":["El-Hattab-Alkuraya-Syndrom","WDR45B-assoziierte neurologische Entwicklungsstörung"]},"es":{"name":"Síndrome de retraso global del desarrollo-epilepsia refractaria de inicio precoz-cuadriplejia espástica-microcefalia-atrofia cerebral","synonyms":["Síndrome de El-Hattab-Alkuraya","Trastorno del neurodesarrollo asociado al gen WDR45B"]},"it":{"name":"Sindrome ritardo dello sviluppo globale-epilessia refrattaria ad esordio precoce-tetraplegia spastica-microcefalia-atrofia cerebrale","synonyms":["Sindrome di El-Hattab-Alkuraya","Malattia del neurosviluppo correlata a WDR45B"]},"nl":{"name":"Algehele ontwikkelingsachterstand - vroeg optredende refractaire epilepsie - spastische tetraplegie - microcefalie - cerebrale atrofie-syndroom","synonyms":["Syndroom van El-Hattab-Alkuraya","WDR45B-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome"},"pl":{"name":"Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome","synonyms":["El-Hattab-Alkuraya Syndrome","WDR45B-related neuordevelopmental disorder"]},"cs":{"name":"Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome","synonyms":["El-Hattab-Alkuraya Syndrome","WDR45B-related neuordevelopmental disorder"]}},"xrefs":[{"source":"OMIM","code":"617977","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":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"WDR45B","name":"WD repeat domain 45B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28503735[PMID]","hgnc":"25072","ensembl":"ENSG00000141580","omim":"609226","loci":["17q25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"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}