{"orpha":85282,"name":"MEHMO syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome"],"definition":"A rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85282/","orphanet_url":"https://www.orpha.net/en/disease/detail/85282","names":{"fr":{"name":"Syndrome de MEHMO","synonyms":["Syndrome de déficience intellectuelle liée à l'X-épilepsie-hypogénitalisme-microcéphalie-obésité"],"definition":"Déficience intellectuelle rare, liée à l'X, caractérisée par une déficience intellectuelle légère à profonde, une microcéphalie, un retard de croissance et un hypogonadisme. L'obésité, le diabète précoce et l'épilepsie sont présents de façon plus variable."},"de":{"name":"MEHMO-Syndrom","synonyms":["Syndromale Intelligenzminderung mit epileptische Krampfanfällen, Mikrozephalie, Hypogenitalismus und Adipositas"],"definition":"Eine seltene X-chromosomale syndromale Form der Intelligenzminderung, die durch eine leichte bis schwere Intelligenzminderung, Mikrozephalie, Wachstumsverzögerung und Hypogenitalismus gekennzeichnet ist. Adipositas, früh einsetzender Diabetes und Epilepsie sind in unterschiedlicher Ausprägung vorhanden."},"es":{"name":"Síndrome MEHMO","synonyms":["Síndrome de discapacidad intelectual-crisis epilépticas-hipogenitalismo-microcefalia-obesidad ligado al cromosoma X"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente ligada al cromosoma X caracterizada por discapacidad intelectual de leve a profunda, microcefalia, retraso del crecimiento e hipogonadismo. La obesidad, la diabetes de inicio temprano y la epilepsia se presentan de manera más variable."},"it":{"name":"Sindrome MEHMO","synonyms":["Ritardo mentale legato all'X - crisi epilettiche - ipogenitalismo - microcefalia - obesità","Sindrome disabilità intellettiva legata all'X-crisi epilettiche-ipogenitalismo- microcefalia-obesità"],"definition":"Si tratta di una disabilità intellettiva sindromica rara legata all'X, caratterizzata da disabilità intellettiva lieve-grave, microcefalia, ritardo della crescita e ipogenitalismo. Può associarsi a obesità, diabete ad esordio precoce ed epilessia."},"nl":{"name":"MEHMO-syndroom","synonyms":["X-gebonden intellectuele achterstand - epileptische aanvallen - hypogenitalisme - microcefalie - obesitas-syndroom"],"definition":"Een zeldzame X-gebonden syndromale intellectuele achterstand, gekenmerkt door milde tot zeer ernstige intellectuele achterstand, microcefalie, groeiachterstand, en hypogenitalisme. Obesitas, vroeg optredende diabetes, en epilepsie zijn variabeler aanwezig."},"pt":{"name":"Síndrome MEHMO","synonyms":["Síndrome de perturbação do desenvolvimento intelectual-convulsões epilépticas-hipogenitalismo-microcefalia-obesidade ligada ao cromossoma X"]},"pl":{"name":"Zespół MEHMO","synonyms":["Niepełnosprawność intelektualna sprzężona z chromosomem X - napady padaczkowe - niedorozwój narządów płciowych - małogłowie - otyłość"]},"cs":{"name":"MEHMO syndrom","synonyms":["X-vázaný syndrom zahrnující mentální retardaci, epileptické záchvaty, hypogenitalismus, mikrocefalii a obezitu"]},"uk":{"name":"Синдром МЕНМО","synonyms":["Х-зчеплений синдром розумової відсталості - епілептичних нападів - гіпогеніталізму - мікроцефалії - ожиріння"],"definition":"A rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present."},"zh":{"name":"MEHMO综合征","synonyms":["X-连锁智力障碍-癫痫性发作-生殖腺发育不全-小头畸形-肥胖综合征"]},"tr":{"name":"MEHMO sendromu","synonyms":["X'e bağlı zihinsel yetersizlik-epileptik nöbetler-hipogenitalizm-mikrosefali-obezite sendromu"]}},"xrefs":[{"source":"OMIM","code":"300148","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD29","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"500681653"},{"source":"MONDO","code":"0010258","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537451","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846278","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9178","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":225700,"name":"Mitochondrial disease with epilepsy","classifications":[156,181]},{"orpha":225703,"name":"Mitochondrial disease with peripheral neuropathy","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[{"symbol":"EIF2S3","name":"eukaryotic translation initiation factor 2 subunit gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28055140[PMID]","hgnc":"3267","ensembl":"ENSG00000130741","omim":"300161","loci":["Xp22.11"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"12032729[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12032729[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"10482947[PMID]","terms":[{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009748","label":"Large earlobe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null}]}}