{"orpha":93947,"name":"X-linked intellectual disability, Golabi-Ito-Hall type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93947/","orphanet_url":"https://www.orpha.net/en/disease/detail/93947","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Golabi-Ito-Hall","definition":"Le syndrome de Golabi-Ito-Hall est un syndrome de déficit intellectuel lié à l'X caractérisé par un déficit intellectuel, une microcéphalie et une petite taille. Il appartient au groupe des anomalies rassemblées sous l'appellation de syndrome de Renpenning."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Golabi-Ito-Hall","synonyms":["Golabi-Ito-Hall-Syndrom"],"definition":"Das Golabi-Ito-Hall-Syndrom zählt zur Gruppe der Syndrome mit X-chromosomaler geistiger Retardierung (XLMR; s. dort) und ist gekennzeichnet durch geistige Retardierung, Mikrozephalie und Kleinwuchs. Es gehört zur Gruppe der Krankheiten, die unter der Diagnose eines Renpenning-Syndroms (s. dort) zusammengefasst werden."},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Golabi-Ito-Hall","definition":"Es un síndrome de discapacidad intelectual ligado al X (XMLR), caracterizado por déficit intelectual, microcefalia y estatura baja. Pertenece a un grupo de trastornos denominados colectivamente como síndrome de Renpenning."},"it":{"name":"Disabilità intellettiva legata all'X, tipo Golabi-Ito-Hall","definition":"La sindrome di Golabi-Ito-Hall è una sindrome da ritardo mentale legato all'X (XLMR; si veda questo termine) caratterizzata da deficit cognitivo, microcefalia e bassa statura. Appartiene al gruppo di malattie che fanno riferimento alla sindrome di Renpenning (si veda questo termine)."},"nl":{"name":"X-gebonden intellectuele achterstand, Golabi-Ito-Hall-type","definition":"Een X-gebonden syndromale intellectuele beperking (XLMR), gekarakteriseerd door intellectuele achterstand, microcefalie en kleine gestalte. Het behoort tot de groep van aandoeningen waarnaar collectief verwezen wordt als syndroom van Renpenning."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligado ao X, tipo Golabi-Ito-Hall","definition":"A síndrome Golabi-Ito-Hall é uma síndrome de deficiência intelectual ligada ao cromossoma X (AMLX, ver este termo), caracterizada por deficiência intelectual, microcefalia e baixa estatura. Pertence ao grupo de doenças que coletivamente são referenciadas como síndrome de Renpenning (ver este termo)."},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Golabi, Ito i Hall","definition":"Zespół Golabiego, Ito i Hall jest zespołem niepełnosprawności intelektualnej sprzężonej z chromosomem X (XLMR), charakteryzującym się niepełnosprawnością intelektualną, mikrocefalią oraz niskim wzrostem. Należy do grupy zaburzeń zwanych razem zespołem Renpenninga"},"cs":{"name":"X-vázaná mentální retardace, Golabiové-Itoové-Hallův typ","synonyms":["X-vázaná mentální retardace, Golabi-Ito-Hallův typ"]},"uk":{"name":"Х-зчеплена розумова відсталість, тип Голабі-Іто-Холл","definition":"An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome."},"zh":{"name":"X-连锁智力障碍，Golabi-Ito-Hall型"},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Golabi-Ito-Hall tipi"}},"xrefs":[{"source":"OMIM","code":"309500","qualifier":"NTBT","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":"index","validated":true,"icd11_uri":"1190955738"},{"source":"MONDO","code":"0019768","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681614","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":3242,"name":"Renpenning syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"PQBP1","name":"polyglutamine binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9330","ensembl":"ENSG00000102103","omim":"300463","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"16740914[PMID]","terms":[{"hpo":"HP:0000378","label":"Cupped ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002299","label":"Brittle hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011359","label":"Dry hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001264","label":"Spastic diplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}