{"orpha":2732,"name":"Olivopontocerebellar atrophy-deafness syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Olivopontocerebellar atrophy-hearing loss syndrome"],"definition":"Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2732/","orphanet_url":"https://www.orpha.net/en/disease/detail/2732","names":{"fr":{"name":"Syndrome d'atrophie olivopontocérébelleuse-surdité","definition":"Le syndrome d'atrophie olivopontocérébelleuse-surdité est caractérisé par une atrophie olivo-ponto-cérébelleuse débutant dans la petite enfance, une surdité neuro-sensorielle et des troubles du langage. Il a été décrit chez moins de 15 enfants. La plupart des cas étaient sporadiques, mais une transmission autosomique récessive a été suggérée dans trois cas."},"de":{"name":"Olivopontozerebelläre Atrophie-Schwerhörigkeit-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch im Säuglingsalter beginnende olivo-ponto-zerebelläre Atrophie, Schallempfindungs-Schwerhörigkeit und Sprachstörung."},"es":{"name":"Síndrome de atrofia olivopontocerebelosa-sordera","synonyms":["Síndrome de atrofia olivopontocerebelosa-hipoacusia"],"definition":"Es un síndrome caracterizado por atrofia olivopontocerebelosa de inicio en la infancia, sordera neurosensorial y afectación del habla. Se ha descrito en menos de 15 niños. La mayoría de los casos fueron esporádicos, pero en tres casos se sugirió una herencia autosómica recesiva."},"it":{"name":"Atrofia olivo-ponto-cerebellare - sordità"},"nl":{"name":"Olivopontocerebellaire atrofie - doofheid-syndroom","synonyms":["Olivopontocerebellaire atrofie - gehoorverlies-syndroom"],"definition":"Een syndroom, gekenmerkt door in de zuigelingentijd optredende olivopontocerebellaire atrofie, sensorineurale doofheid, en spraakstoornis. Het werd beschreven bij minder dan 15 kinderen. De meeste gevallen waren sporadisch, maar in drie gevallen werd autosomaal recessieve overerving gesuggereerd."},"pt":{"name":"Síndrome de atrofia olivo-ponto-cerebelosa-surdez"},"pl":{"name":"Zanik oliwki, mostu i móżdżku - głuchota","synonyms":["Olivopontocerebellar atrophy-hearing loss syndrome"]},"cs":{"name":"Syndrom zahrnující olivopontocerebelární atrofii a hluchotu","synonyms":["Olivopontocerebellar atrophy-hearing loss syndrome"]},"uk":{"name":"Синдром оливопонтоцеребеллярної атрофії-глухоти","synonyms":["Синдром оливопонтоцеребеллярної атрофії - втрати слуху"],"definition":"Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases."},"zh":{"name":"橄榄体脑桥小脑萎缩-耳聋综合征","synonyms":["橄榄体脑桥小脑萎缩-听力丧失综合征"]},"tr":{"name":"Olivopontoserebellar atrofi-sağırlık sendromu","synonyms":["Olivopontoserebellar atrofi-işitme kaybı sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1226328843"},{"source":"MONDO","code":"0017135","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275113","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4070","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002542","label":"Olivopontocerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}