{"orpha":85277,"name":"X-linked intellectual disability, Cantagrel type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85277/","orphanet_url":"https://www.orpha.net/en/disease/detail/85277","names":{"fr":{"name":"Déficience intellectuelle liée à l'X type Cantagrel","definition":"Le retard mental lié à l'X de type Cantagrel est caractérisé par une hypotonie néonatale marquée, une quadriparésie progressive, un développement moteur très retardé (acquisition de la marche à 3 ans), un reflux gastro-oesophagien, des mouvements stéreotypés des mains, une ésotropie et un autisme infantile."},"de":{"name":"Intelligenzminderung, X-chromosomale, Typ Cantagrel","definition":"Eine seltene X-chromosomale Intelligenzminderung, die durch ausgeprägte neonatale Hypotonie, progressive Quadriparese, stark verzögerte Entwicklungsschritte (Gehen im Alter von 3 Jahren), gastroösophagealen Reflux, stereotype Handbewegungen, Esotropie und infantilen Autismus gekennzeichnet ist."},"es":{"name":"Discapacidad intelectual ligada al cromosoma X tipo Cantagrel","definition":"Una discapacidad intelectual poco común ligada al cromosoma X caracterizada por hipotonía neonatal marcada, cuadriparesia progresiva, hitos del desarrollo muy retrasados (caminar a los 3 años de edad), reflujo gastroesofágico, movimientos estereotipados de las manos, esotropía y autismo infantil."},"it":{"name":"Disabilità intellettiva legata all'X, tipo Cantagrel"},"nl":{"name":"X-gebonden intellectuele achterstand, Cantagrel-type","definition":"Een zeldzame X-gebonden intellectuele achterstand, gekarakteriseerd door uitgesproken neonatale hypotonie, progressieve quadriparese, ernstig vertraagde ontwikkelingsmijlpalen (stappen op de leeftijd van 3 jaar), gastro-oesofageale reflux, stereotiepe bewegingen van handen, esotropie, en infantiel autisme."},"pt":{"name":"Perturbação do desenvolvimento intelectual ligada ao X, tipo Cantagrel"},"pl":{"name":"Niepełnosprawność intelektualna typu Cantagrela sprzężona z chromosomem X"},"cs":{"name":"X-vázaná mentální retardace, Cantagrelův typ"},"uk":{"name":"Х-зчеплена розумова відсталість, тип Кантагрела","definition":"A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism."},"zh":{"name":"X连锁智力障碍，Cantagrel型"},"tr":{"name":"X'e bağlı zihinsel yetersizlik, Cantagrel tipi"}},"xrefs":[{"source":"OMIM","code":"300912","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010483","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305023","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"NEXMIF","name":"neurite extension and migration factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23615299[PMID]","hgnc":"29433","ensembl":"ENSG00000050030","omim":"300524","loci":["Xq13.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"27358180[PMID]_27568816[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27358180[PMID]_27568816[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"15466006[PMID]","terms":[{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003011","label":"Abnormality of the musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000049","label":"Shawl scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null}]}}