{"orpha":488613,"name":"Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic neurological disorder characterized by infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea), or mild dysmorphic features, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-488613/","orphanet_url":"https://www.orpha.net/en/disease/detail/488613","names":{"fr":{"name":"Syndrome de retard global de développement-anomalies neuro-ophtalmologiques-épilepsie-déficience intellectuelle","definition":"Maladie neurologique génétique rare caractérisée par l'apparition, entre la petite enfance et l'enfance d'un retard global de développement, d'une hypotonie, de crises convulsives, d'un retard de croissance et d'une déficience intellectuelle. Les autres signes cliniques variables incluent, entre autres, le strabisme, la déficience visuelle corticale, le nystagmus, les troubles du mouvement (tels que la dystonie, l'ataxie ou la chorée) ou une dysmorphie légère."},"de":{"name":"Allgemeine Entwicklungsverzögerung-neuroophthalmologische Anomalien-Krämpfe-Intelligenzminderung-Syndrom","definition":"Eine seltene genetisch bedingte neurologische Störung, die sich durch eine globale Entwicklungsverzögerung, Hypotonie, Krampfanfälle, Wachstumsverzögerung und Intelligenzminderung im Kindesalter auszeichnet. Zu den weiteren variablen Merkmalen gehören unter anderem Strabismus, kortikale Sehstörungen, Nystagmus, Bewegungsstörungen (wie Dystonie, Ataxie oder Chorea) oder leichte dysmorphe Merkmale."},"es":{"name":"Síndrome de retraso global del desarrollo-anomalías neurooftalmológicas-crisis-discapacidad intelectual","definition":"Es un trastorno neurológico genético poco frecuente, caracterizado por un retraso global del desarrollo, hipotonía, crisis epilépticas, retraso del crecimiento y discapacidad intelectual de inicio entre la lactancia y la infancia. Otros hallazgos adicionales variables incluyen estrabismo, alteración visual cortical, nistagmo, trastornos del movimiento (tales como distonía, ataxia o corea) o leves rasgos dismórficos, entre otros."},"it":{"name":"Sindrome ritardo dello sviluppo globale-anomalie neuro-oculari-crisi epilettiche-disabilità intellettiva","definition":"Si tratta di una malattia neurologica genetica rara, che esordisce nel periodo neonatale o nell'infanzia con ritardo dello sviluppo globale, ipotonia, crisi epilettiche, ritardo della crescita e disabilità intellettiva. Altri segni clinici variabili sono lo strabismo, la compromissione corticale della vista, il nistagmo, i disturbi del movimento (distonia, atassia o corea) e i lievi dismorfismi."},"nl":{"name":"Algemene ontwikkelingsachterstand - neuro-oftalmologische afwijkingen - insulten - intellectuele achterstand-syndroom","definition":"Een zeldzame, genetische neurologische aandoening, gekarakteriseerd door aanvang in de zuigelingen- tot kindertijd van algehele ontwikkelingsachterstand, hypotonie, insulten, groeiachterstand, en intellectuele beperking. Bijkomende variabele kenmerken zijn onder meer strabisme, verlies van corticaal gezichtsvermogen, nystagmus, bewegingsstoornis (zoals dystonie, ataxie, of chorea), of milde dysmorfe kenmerken."},"pt":{"name":"Síndrome de perturbação global do desenvolvimento-anormalias neuro-oftalmológicas-convulsões-perturbação do desenvolvimento intelectual"},"pl":{"name":"Zespół całościowego zaburzenia rozwoju, wad neuro-ocznych, drgawek oraz niepełnosprawności intelektualnej"},"cs":{"name":"Syndrom zahrnující celkové opoždění vývoje, neuro-oftalmologické abnormality, záchvaty a mentální retardaci"},"uk":{"name":"Синдром глобальної затримки розвитку-нейро-офтальмологічних порушень-судом- інтелектуальної недостатності","definition":"A rare genetic neurological disorder characterized by infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea), or mild dysmorphic features, among others."},"zh":{"name":"全球发育迟缓-神经-眼异常-癫痫发作-智力障碍综合征","definition":"一种罕见的遗传性神经系统疾病，其特点是婴儿至儿童时期开始出现全面发育迟缓、肌张力低下、癫痫发作、发育迟缓和智力障碍。其他可变的特征也包括斜视、皮质视力缺损、眼球震颤、运动障碍（如肌张力失调、共济失调或舞蹈症）或轻度畸形等。"},"tr":{"name":"Yaygın gelişme geriliği-nöro-oftalmolojik anormallikler-nöbetler-zihinsel yetersizlik sendromu"}},"xrefs":[{"source":"OMIM","code":"616973","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"F84.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"0024252","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14855","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"24252","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567482","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":522508,"name":"Rare genetic ophthalmic disorder with cortical involvement","classifications":[156]},{"orpha":519343,"name":"Rare ophthalmic disorder with cortical involvement","classifications":[189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GNB1","name":"G protein subunit beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27108799[PMID]_28087732[PMID]_27668284[PMID]","hgnc":"4396","ensembl":"ENSG00000078369","omim":"139380","loci":["1p36.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":26.0,"area":"Worldwide","status":"Validated","source":"28087732[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28087732[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-13","source":"25485910[PMID]_28087732[PMID]","terms":[{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002474","label":"Expressive language delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0010841","label":"Multifocal epileptiform discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011198","label":"EEG with generalized epileptiform discharges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007772","label":"Impaired smooth pursuit","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Excluded (0%)","criteria":null}]}}