{"orpha":522077,"name":"Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BAGOS","Baker-Gordon syndrome","SYT1-related neurodevelopmental disorder"],"definition":"A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-522077/","orphanet_url":"https://www.orpha.net/en/disease/detail/522077","names":{"fr":{"name":"Syndrome d'hypotonie infantile-anomalies oculomotrices-mouvements hyperkinétiques-retard de développement","synonyms":["BAGOS","Syndrome de Baker-Gordon","Trouble neurologique du développement associé à SYT1"],"definition":"Maladie neurologique génétique rare caractérisée par une hypotonie infantile, des anomalies ophtalmiques congénitales (dont le strabisme, l'ésotropie, le nystagmus et la déficience visuelle centrale), un retard global du développement et une déficience intellectuelle, des troubles du comportement et du mouvement (tels que la dystonie, la chorée, l'hyperkinésie et les stéréotypies). Une dysmorphie faciale légère et des malformations squelettiques ont également été rapportées. L'EEG met en évidence des anomalies marquées en l'absence de crises convulsives manifestes."},"de":{"name":"Infantile Hypotonie-okulomotorische Anomalien-hyperkinetische Bewegungsstörungen-Entwicklungsverzögerung-Syndrom","synonyms":["BAGOS","Baker-Gordon-Syndrom","SYT1-assoziierte neurologische Entwicklungsstörung"],"definition":"Eine genetisch bedingte seltene neurologische Störung, die durch infantile Hypotonie, angeborene Augenanomalien (einschließlich Strabismus, Esotropie, Nystagmus und zentraler Sehbehinderung), globale Entwicklungsverzögerung und Intelligenzminderung, Verhaltensanomalien und Bewegungsstörungen (wie Dystonie, Chorea, Hyperkinesie, Stereotypien) gekennzeichnet ist. Leichte Gesichtsdysmorphien und Skelettfehlbildungen wurden ebenfalls berichtet. EEG-Untersuchungen zeigen deutliche Auffälligkeiten ohne offene epileptische Anfälle."},"es":{"name":"Síndrome de hipotonía infantil-anomalías oculomotoras-movimientos hipercinéticos-retraso del desarrollo","synonyms":["BAGOS","Síndrome de Baker-Gordon","Trastorno del neurodesarrollo asociado a SYT1"],"definition":"Es un trastorno neurológico, de origen genético y poco frecuente, caracterizado por hipotonía infantil, anomalías congénitas oftálmicas (incluyendo estrabismo, esotropía, nistagmo y discapacidad visual central), retraso global del desarrollo y discapacidad intelectual, alteraciones de la conducta y trastornos del movimiento (tales como distonía, corea, hipercinesia y estereotipias). También se ha descrito leve dismorfia facial y deformidades esqueléticas. La prueba de EEG muestra unas marcadas anomalías en ausencia de crisis epilépticas manifiestas."},"it":{"name":"Sindrome ipotonia neonatale-anomalie oculomotorie-movimenti ipercinetici-ritardo dello sviluppo","synonyms":["BAGOS","Patologia del neurosviluppo SYT1-correlata","Sindrome di Baker-Gordon"],"definition":"Si tratta di una malattia neurologica rara, di origine genetica, caratterizzata da ipotonia neonatale, anomalie oculari congenite (strabismo, esotropia, nistagmo e compromissione della visione centrale), ritardo dello sviluppo globale, disabilità intellettiva, anomalie del comportamento e disturbi del movimento (distonia, corea, ipercinesia, stereotipie). Sono stati descritti pazienti con dismorfismi facciali lievi e deformità scheletriche. L'EEG evidenzia anomalie marcate in assenza di crisi epilettiche evidenti."},"nl":{"name":"Infantiele hypotonie - oculomotorische anomalieën - hyperkinetische bewegingen - ontwikkelingsachterstand-syndroom","synonyms":["BAGOS","SYT1-gerelateerde neurologische ontwikkelingsstoornis","Syndroom van Baker-Gordon"],"definition":"Een zeldzame, genetische neurologische aandoening, gekarakteriseerd door infantiele hypotonie, congenitale ooganomalieën (waaronder strabisme, esotropie, nystagmus, en verlies van centraal gezichtsvermogen), algehele ontwikkelingsachterstand en intellectuele achterstand, gedragsafwijkingen, en bewegingsstoornis (zoals dystonie, chorea, hyperkinesie, stereotypie). Milde faciale dysmorfie en skeletmisvormingen werden ook reeds gerapporteerd. EEG toont duidelijke afwijkingen in afwezigheid van manifeste epileptische insulten."},"pt":{"name":"Síndrome de hipotonia infantil-anomalias oculomotoras-movimentos hipercinéticos-perturbação do desenvolvimento","synonyms":["BAGOS","Doença do neurodesenvolvimento SYT1-relacionada","Síndrome Baker-Gordon"]},"pl":{"name":"Zespół hipotonii dziecięcej – anomalii okoruchowych – ruchów hiperkinetycznych – opóźnienia rozwoju","synonyms":["Zaburzenie neurorozwojowe związane z SYT1"]},"cs":{"name":"Syndrom zahrnující kojeneckou hypotonii, okulomotorické anomálie, hyperkinetické pohyby a opoždění vývoje","synonyms":["SYT1-vázaná neurovývojová porucha"]},"uk":{"name":"Інфантильний синдром гіпотонії-окуломоторних аномалій-гіперкінетичних рухів-затримки розвитку","synonyms":["BAGOS","Синдром Бейкера-Гордона","Порушення нейророзвитку, повязане з SYT1"],"definition":"A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures."},"zh":{"name":"婴儿肌张力过低症--动眼神经异常--运动过度--发育迟缓综合征","synonyms":["SYT1相关神经发育症"],"definition":"一种罕见的遗传性神经系统疾病，其特征是婴儿肌张力低下、先天性眼球异常（包括斜视、内斜视、眼球震颤和中枢性视力障碍）、全面发育迟缓和智力障碍、行为异常和运动障碍（如肌张力障碍、舞蹈症、运动机能亢进、刻板行为）。也有轻度面部畸形和骨骼畸形的报道。在无明显癫痫发作的情况下，脑电图检查有明显异常。"},"tr":{"name":"İnfantil hipotoni-okülomotor anomaliler-hiperkinetik hareketler-gelişme geriliği sendromu","synonyms":["SYT1-ilişkili nörogelişimsel bozukluk"]}},"xrefs":[{"source":"OMIM","code":"618218","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"F84.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"0033864","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4748715","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":496916,"name":"Rare genetic hyperkinetic movement disorder","classifications":[156]},{"orpha":494457,"name":"Rare hyperkinetic movement disorder","classifications":[181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"SYT1","name":"synaptotagmin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25705886[PMID]_30107533[PMID]","hgnc":"11509","ensembl":"ENSG00000067715","omim":"185605","loci":["12q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"30107533[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30107533[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-05-21","source":"25705886[PMID]_30107533[PMID]","terms":[{"hpo":"HP:0001344","label":"Absent speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002487","label":"Hyperkinetic movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025152","label":"Poor visual behavior for age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000817","label":"Reduced eye contact","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008762","label":"Repetitive compulsive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040296","label":"Abnormal location of the eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007874","label":"Almond-shaped palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011445","label":"Athetoid cerebral palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001776","label":"Bilateral talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000244","label":"Brachyturricephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002871","label":"Central apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025247","label":"Dermoid cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011196","label":"EEG with focal sharp waves","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011194","label":"EEG with series of focal spikes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010850","label":"EEG with spike-wave complexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008138","label":"Equinus calcaneus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100248","label":"Hemiballismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011228","label":"Horizontal eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002883","label":"Hyperventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004879","label":"Intermittent hyperventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008081","label":"Pes valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005876","label":"Progressive flexion contractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005274","label":"Prominent nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012169","label":"Self-biting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000742","label":"Self-mutilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000349","label":"Widow's peak","frequency":"Occasional (29-5%)","criteria":null}]}}