{"orpha":730355,"name":"Global developmental delay-severe feeding difficulties-short stature-multiple congenital anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["RYBP-related neurodevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-730355/","orphanet_url":"https://www.orpha.net/en/disease/detail/730355","names":{"fr":{"name":"Syndrome de retard global de développement-troubles sévères de l'alimentation-petite taille-anomalies congénitales multiples","synonyms":["Trouble du neurodéveloppement associé à RYBP"]},"de":{"name":"Globale Entwicklungsverzögerung-schwere Fütterstörungen-Kleinwuchs-multiple kongenitale Anomalien-Syndrom","synonyms":["RYBP-assoziierte neurologische Entwicklungsstörung"]},"es":{"name":"Síndrome de retraso global del desarrollo-dificultades graves para la alimentación-talla baja-múltiples anomalías congénitas","synonyms":["Trastorno del neurodesarrollo asociado al gen RYBP"]},"it":{"name":"Sindrome ritardo dello sviluppo globale-gravi difficoltà di alimentazione-bassa statura-anomalie congenite multiple","synonyms":["Malattia del neurosviluppo correlata a RYBP"]},"nl":{"name":"Algehele ontwikkelingsachterstand - ernstige voedingsproblemen - kleine gestalte - multipele congenitale anomalieën-syndroom","synonyms":["RYBP-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Global developmental delay-severe feeding difficulties-short stature-multiple congenital anomalies syndrome"},"pl":{"name":"Global developmental delay-severe feeding difficulties-short stature-multiple congenital anomalies syndrome","synonyms":["RYBP-related neurodevelopmental disorder"]},"cs":{"name":"Global developmental delay-severe feeding difficulties-short stature-multiple congenital anomalies syndrome","synonyms":["RYBP-related neurodevelopmental disorder"]}},"xrefs":[],"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":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"RYBP","name":"RING1 and YY1 binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"39891528[PMID]","hgnc":"10480","ensembl":null,"omim":null,"loci":["RING1 and YY1 binding protein"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}