{"orpha":633014,"name":"SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic, syndromic intellectual disability syndrome characterized by mild to severe global developmental delay and intellectual disability, delayed or absent speech and walking, and bilateral sensorineural deafness. Severity of the symptoms are variable. Patients may manifest with profound hypotonia, severe feeding difficulties and secretory dysfuntion. Autistic features, spasticity, mild and non-specific dysmorphic features and cardiac defects were reported in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-633014/","orphanet_url":"https://www.orpha.net/en/disease/detail/633014","names":{"fr":{"name":"Syndrome de déficience intellectuelle-surdité neurosensorielle associé à SLC12A2","definition":"Déficience intellectuelle syndromique rare d'origine génétique, caractérisée par un retard de développement global léger à sévère, une déficience intellectuelle, un retard ou une non-acquisition du langage et de la marche et une surdité neurosensorielle bilatérale. Les symptômes sont de gravité variable. Les patients peuvent présenter une hypotonie profonde, de graves difficultés à s'alimenter et un dysfonctionnement du système excréteur. Des troubles de type autistique, une spasticité, une dysmorphie légère et non spécifique et des malformations cardiaques ont été décrits chez certains patients."},"de":{"name":"SLC12A2-assoziierte Entwicklungsverzögerung mit Intelligenzminderung und sensorineuraler Schwerhörigkeit","definition":"Eine seltene neurologische Störung, die sich durch eine leichte bis schwere globale Entwicklungsverzögerung, Intelligenzminderung, verzögertes oder fehlendes Sprechen und Gehen sowie beidseitige sensorineurale Taubheit auszeichnet. Der Schweregrad der Symptome variiert. Die Patienten können eine ausgeprägte Hypotonie, schwere Fütterungsschwierigkeiten und eine Sekretionsstörung aufweisen. Bei einigen Patienten wurden zudem autistische Züge, Spastizität, leichte und unspezifische dysmorphe Merkmale sowie Herzfehler festgestellt."},"es":{"name":"Síndrome de retraso del desarrollo-discapacidad intelectual-sordera neurosensorial asociado a SLC12A2","definition":"Es un síndrome de discapacidad intelectual, de origen genético y poco frecuente, caracterizado por retraso global del desarrollo y discapacidad intelectual de leve a grave, retraso o ausencia del habla y de la marcha, y sordera neurosensorial bilateral. La gravedad de los síntomas es variable. Los pacientes pueden manifestar hipotonía profunda, dificultades graves para la alimentación y disfunción secretora. En algunos pacientes se han descrito rasgos autistas, espasticidad, rasgos dismórficos leves e inespecíficos, y defectos cardíacos."},"it":{"name":"Sindrome da ritardo dello sviluppo-disabilità intellettiva-sordità neurosensoriale correlata a SLC12A2"},"nl":{"name":"SLC12A2-gerelateerd ontwikkelingsachterstand - intellectuele achterstand - sensorineurale doofheid-syndroom","definition":"Een zeldzame genetische, syndromale intellectuele achterstand, gekenmerkt door milde tot ernstige algehele ontwikkelingsachterstand en intellectuele achterstand, achterstand of afwezigheid van spraak en loopvermogen, en bilaterale sensorineurale doofheid. De ernst van de symptomen is variabel. Patiënten kunnen hypotonie, ernstige voedingsproblemen en disfunctie van secretie vertonen. Bij sommige patiënten werden autistische kenmerken, spasticiteit, milde en aspecifieke dysmorfe kenmerken en hartdefecten gerapporteerd."},"pt":{"name":"Síndrome de perturbação intelectual e do desenvolvimento-surdez neurossensorial SLC12A2-relacionada"},"pl":{"name":"Związany z SLC12A2 zespół opoźnienia rozwoju, niepełnosprawności intelektualnej i niedosłuchu zmysłowo-nerwowego","definition":"Rzadki genetyczny zespół syndromicznej niepełnosprawności intelektualnej, charakteryzujący się łagodnym lub ciężkim globalnym opóźnieniem rozwoju oraz niepełnosprawnością intelektualną, opóźnieniem lub brakiem rozwoju mowy, brakiem zdolności chodzenia oraz obustronnym niedosłuchem odbiorczym. Nasilenie objawów jest zmienne.inf brsup U pacjentów może występować głęboka hipotonia, nasilone trudności w karmieniu oraz zaburzenia wydzielania. U części chorych opisywano również zaburzenia ze spektrum autyzmu, spastyczność, łagodną i niespecyficzną dysmorfię oraz wady serca."},"cs":{"name":"Syndrom související s SLC12A2 zahrnující senzorineurální hluchotu, opoždění vývoje a mentální retardaci"},"uk":{"name":"SLC12A2-повязаний синдром затримки розвитку-інтелектуальної недостатності-сенсоневральної глухоти"}},"xrefs":[{"source":"OMIM","code":"619080","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619083","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0859000","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816806","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":633024,"name":"SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome","type":"Clinical subtype"},{"orpha":633021,"name":"SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"SLC12A2","name":"solute carrier family 12 member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34797034[PMID]","hgnc":"10911","ensembl":"ENSG00000064651","omim":"600840","loci":["5q23.3"],"via":{"orpha":633021,"name":"SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome"}},{"symbol":"SLC12A2","name":"solute carrier family 12 member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32658972[PMID]","hgnc":"10911","ensembl":"ENSG00000064651","omim":"600840","loci":["5q23.3"],"via":{"orpha":633024,"name":"SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"34797034[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"34797034[PMID]_ORPHANET"}],"phenotypes":null}