{"orpha":412069,"name":"AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Xia-Gibbs syndrome"],"definition":"A rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-412069/","orphanet_url":"https://www.orpha.net/en/disease/detail/412069","names":{"fr":{"name":"Syndrome de déficience intellectuelle-apnée obstructive du sommeil-dysmorphie modérée associé à AHDC1","synonyms":["Syndrome de Xia-Gibbs"],"definition":"Déficience intellectuelle syndromique rare caractérisée par une hypotonie, un retard de développement, une absence ou un retard sévère d'acquisition du langage, une déficience intellectuelle, une apnée obstructive du sommeil, une légère dysmorphie faciale et des troubles du comportement. Des cas d'épilepsie, d'ataxie et de nystagmus ont également été rapportés."},"de":{"name":"Xia-Gibbs-Syndrom","synonyms":["Intelligenzminderung-obstruktive Schlafapnoe-milde Dysmorphien-Syndrom durch AHDC1-Genmutation","XGS"],"definition":"Eine syndromale Form der Intelligenzminderung, die durch Hypotonie, Entwicklungsverzögerung, fehlende oder stark verzögerte Sprachentwicklung, intellektuelle Beeinträchtigung, obstruktive Schlafapnoe, leichte Gesichtsdysmorphien und Verhaltensanomalien gekennzeichnet ist. Epilepsie, Ataxie und Nystagmus wurden ebenfalls berichtet."},"es":{"name":"Síndrome de discapacidad intelectual-apnea obstructiva del sueño-dismorfia leve asociado a AHDC1","synonyms":["Síndrome de Xia-Gibbs"],"definition":"Es una discapacidad intelectual, sindrómica y poco frecuente, caracterizada por hipotonía, retraso del desarrollo, ausencia o retraso grave del desarrollo del habla, discapacidad intelectual, apnea obstructiva del sueño, leves características faciales dismórficas y anomalías conductuales. También se ha notificado epilepsia, ataxia y nistagmo."},"it":{"name":"Sindrome da disabilità intellettiva, apnea ostruttiva del sonno e dismorfismi sfumati correlata a AHDC1","synonyms":["Sindrome di Xia-Gibbs"],"definition":"La sindrome che associa disabilità intellettiva, apnea ostruttiva durante il sonno e dismorfismi sfumati correlata ad AHDC1 è una malattia rara da disabilità intellettiva, caratterizzata da ipotonia, ritardo dello sviluppo, assenza o grave ritardo nello sviluppo del linguaggio, disabilità intellettiva, apnee ostruttive durante il sonno, dismorfismi facciali sfumati ed anomalie comportamentali. I pazienti possono presentare epilessia, atassia e nistagmo."},"nl":{"name":"AHDC1-gerelateerd intellectuele achterstand - obstructieve slaapapneu - milde dysmorfie-syndroom","synonyms":["Syndroom van Xia-Gibbs"],"definition":"Een zeldzame, syndromale intellectuele achterstand, gekarakteriseerd door hypotonie, ontwikkelingsachterstand, afwezige of sterk vertraagde spraakontwikkeling, intellectuele achterstand, obstructieve slaapapneu, mild dysmorfe gelaatskenmerken en afwijkend gedrag. Epilepsie, ataxie en nystagmus werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-apneia do sono obstrutiva-dismorfia ligeira AHDC1-relacionada","synonyms":["Síndrome Xia-Gibbs"]},"pl":{"name":"Zespół niepełnosprawność intelektualna-obturacyjny bezdech senny-łagodna dysmorfia spowodowany mutacjami AHDC1","synonyms":["Zespół Xia i Gibbsa"],"definition":"*Zespół niepełnosprawność intelektualna-obturacyjny bezdech senny-łagodna dysmorfia spowodowany mutacjami AHDC1 jest rzadkim zespołem z niepełnosprawnością intelektualną, który charakteryzuje się hipotonią, opóźnieniem rozwoju, brakiem lub znacznie opóźnionym rozwojem mowy, niepełnosprawnością intelektualną, obturacyjnym bezdechem sennym, łagodnymi dysmorficznymi rysami twarzy i zaburzeniami zachowania. Opisywano również występowanie padaczki, ataksji i oczopląsu."},"cs":{"name":"AHDC1-vázaný syndrom zahrnující mentální retardaci, obstrukční spánkovou apnoe a lehkým dysmorfismem","synonyms":["Xiaův-Gibbsův syndrom","Xia-Gibbsův syndrom"]},"uk":{"name":"Синдром інтелектуальної недостатності, повязаної з AHDC1-обструктивного апное сну-легкого дисморфізму","synonyms":["Синдром Ся-Гіббса"],"definition":"A rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported."},"zh":{"name":"AHDC1相关智力障碍-阻塞性睡眠呼吸暂停","synonyms":["夏-吉布斯综合征"],"definition":"罕见的综合征性智力障碍，特征是肌张力低下，发育迟缓，言语发育缺乏或严重延迟，智力障碍，阻塞性睡眠呼吸暂停，面部轻度畸形和行为异常。也有癫痫，共济失调和眼球震颤的报道。"},"tr":{"name":"AHDC1 -ilişkili zihinsel yetersizlik-obstrüktif uyku apnesi-hafif dismorfizm sendromu","synonyms":["Xia-Gibbs sendromu"]}},"xrefs":[{"source":"OMIM","code":"615829","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014358","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4014419","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13409","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"AHDC1","name":"AT-hook DNA binding motif containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24791903[PMID]","hgnc":"25230","ensembl":"ENSG00000126705","omim":"615790","loci":["1p36.11-p35.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"24791903[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24791903[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-03","source":"30152016[PMID]_29696776[PMID]_24791903[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","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:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011477","label":"Upbeat nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002781","label":"Upper airway obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025573","label":"Mild myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006951","label":"Retrocerebellar cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000385","label":"Small earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025267","label":"Snoring","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002779","label":"Tracheomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009909","label":"Uplifted earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null}]}}