{"orpha":67045,"name":"X-linked intellectual disability with isolated growth hormone deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MRGH"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-67045/","orphanet_url":"https://www.orpha.net/en/disease/detail/67045","names":{"fr":{"name":"Syndrome de déficience intellectuelle liée à l'X-déficit isolé en hormone de croissance"},"de":{"name":"X-chromosomale Intelligenzminderung mit isoliertem Wachstumshormonmangel","synonyms":["MRGH"]},"es":{"name":"Discapacidad intelectual ligada al cromosoma X con deficiencia aislada de hormona de crecimiento"},"it":{"name":"Disabilità intellettiva legata all'X con deficit isolato dell'ormone della crescita","synonyms":["MRGH"]},"nl":{"name":"X-gebonden intellectuele achterstand met geïsoleerde groeihormoondeficiëntie","synonyms":["MRGH"]},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X com deficiência isolada de hormona de crescimento","synonyms":["MRGH"]},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z płcią z izolowanym niedoborem hormonu wzrostu","synonyms":["MRGH"]},"cs":{"name":"X-vázaná mentální retardace s izolovaným deficitem růstového hormonu","synonyms":["MRGH"]},"uk":{"name":"Х-зчеплена розумова відсталість з ізольованим дефіцитом гормону росту","synonyms":["MRGH"]},"zh":{"name":"X连锁智力残疾伴单发性生长激素缺乏症","synonyms":["MRGH"]},"tr":{"name":"İzole büyüme hormonu eksikliği ile seyreden X'e bağlı zihinsel 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syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SOX3","name":"SRY-box transcription factor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12428212[PMID]_22139958[PMID]","hgnc":"11199","ensembl":"ENSG00000134595","omim":"313430","loci":["Xq27.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"9508246[PMID]_8826446[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 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