{"orpha":228384,"name":"5q14.3 microdeletion syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to 5q14.3 microdeletion","Del(5)(q14.3)","Monosomy 5q14.3"],"definition":"The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228384/","orphanet_url":"https://www.orpha.net/en/disease/detail/228384","names":{"fr":{"name":"Syndrome de microdélétion 5q14.3","synonyms":["Del(5)(q14.3)","Monosomie 5q14.3","Syndrome d'anomalies cérébrales-retard sévère du développement-dysmorphie faciale-déficience intellectuelle due à une microdélétion 5p14.3"],"definition":"Le syndrome de microdélétion 5q14.3, de description récente, associe un déficit intellectuel sévère avec absence de langage, des mouvements stéréotypiques et une épilepsie."},"de":{"name":"Mikrodeletionssyndrom 5q14.3","synonyms":["Hirnanomalien-schwere Entwicklungsverzögerung-Gesichtsdysmorphie-Intelligenzminderung-Syndrom durch Mikrodeletion 5q14.3","Del(5)(q14.3)","Monosomie 5q14.3"],"definition":"Das neu beschriebene 5q14.3-Mikrodeletion-Syndrom ist gekennzeichnet durch schweres intellektuelles Defizit ohne Sprache, stereotype Bewegungen und Epilepsie."},"es":{"name":"Síndrome de microdeleción 5q14.3","synonyms":["Del(5)(q14.3)","Monosomía 5q14.3","Síndrome de anomalías cerebrales-retraso grave del desarrollo-dismorfia facial-discapacidad intelectual por microdeleción 5q14.3"],"definition":"El síndrome de microdeleción 5q14.3 asocia un déficit intelectual grave con ausencia de habla, movimientos estereotípicos y epilepsia."},"it":{"name":"Sindrome da microdelezione 5q14.3","synonyms":["Del(5)(q14.3)","Monosomia 5q14.3","Sindrome anomalie cerebrali-grave ritardo dello sviluppo-dismorfismo facciale-disabilità intellettiva da microdelezione 5q14.3"],"definition":"La sindrome da microduplicazione 5q14.3, descritta di recente, è caratterizzata da grave ritardo mentale con epilessia, movimenti stereotipati e assenza del linguaggio."},"nl":{"name":"5q14.3-microdeletiesyndroom","synonyms":["Del(5)(q14.3)","Monosomie 5q14.3","Hersenafwijkingen - ernstige ontwikkelingsachterstand - faciale dysmorfie - intellectuele achterstand-syndroom door 5q14.3-microdeletie"],"definition":"Een syndroom, gekenmerkt door ernstige intellectuele achterstand zonder spraak, stereotiepe bewegingen, en epilepsie."},"pt":{"name":"Síndrome de microdeleção 5q14.3","definition":"A síndrome da microdelecção 5q14.3 recentemente descrita inclui défice cognitivo grave sem linguagem, movimentos estereotipados e epilepsia."},"pl":{"name":"Zespół mikrodelecji 5q14.3","synonyms":["Del(5)(q14.3)","Monosomia 5q14.3"]},"cs":{"name":"Mikrodeleční syndrom 5q14.3","synonyms":["Del(5)(q14.3)","Monozomie 5q14.3"]},"uk":{"name":"Синдром мікроделеції 5q14.3","synonyms":["Del(5)(q14.3)","Моносомія 5q14.3"],"definition":"The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy."},"zh":{"name":"5q14.3微缺失综合征","synonyms":["5q14.3单体"],"definition":"最近报道5q14.3微缺失综合征包括严重的智力缺陷、伴言语、刻板动作和癫痫。"},"tr":{"name":"5q14.3 mikrodelesyon sendromu","synonyms":["Del (5) (q14.3)","MonoZomİ 5q14.3"]}},"xrefs":[{"source":"OMIM","code":"613443","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.50","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"310000696"},{"source":"MONDO","code":"0016456","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304529","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12166","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":664410,"name":"Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome","classifications":[147,156,181]},{"orpha":166469,"name":"Chromosomal anomaly with epilepsy as a major feature","classifications":[156,181]},{"orpha":262038,"name":"Partial deletion of the long arm of chromosome 5 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"MEF2C","name":"myocyte enhancer factor 2C","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20513142[PMID]","hgnc":"6996","ensembl":"ENSG00000081189","omim":"600662","loci":["5q14.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"23824879[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23824879[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012639","label":"Abnormal nervous system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002335","label":"Agenesis of cerebellar vermis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006913","label":"Frontal cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null}]}}