{"orpha":708166,"name":"Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["TM2D3-related neurodevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-708166/","orphanet_url":"https://www.orpha.net/en/disease/detail/708166","names":{"fr":{"name":"Syndrome de trouble neurodéveloppemental sévère-dysmorphie faciale-anomalies cérébrales-rénales-cardiaques","synonyms":["Trouble du neurodéveloppement associé à TM2D3"]},"de":{"name":"Neurologische Entwicklungsstörung, TM2D3-assoziierte","synonyms":["Neuro-kardio-renales Fehlbildungssyndrom","Schwere syndromale neurologische Entwicklungsstörung mit Gesichtsdysmorphie und zerebralen, renalen und kardialen Anomalien"]},"es":{"name":"Síndrome de trastorno grave del neurodesarrollo-dismorfia facial-anomalías cerebro-cardio-renales","synonyms":["Trastorno del neurodesarrollo asociado a TM2D3"]},"it":{"name":"Sindrome grave disturbo del neurosviluppo-dismorfismi facciali-anomalie cerebrali-renali-cardiache","synonyms":["Malattia del neurosviluppo correlata a TM2D3"]},"nl":{"name":"Ernstige neurologische ontwikkelingsstoornis - faciale dysmorfie - cerebrale-renale-cardiale anomalieën-syndroom","synonyms":["TM2D3-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome"},"pl":{"name":"Zespół ciężkich zaburzeń neurorozwojowych, dysmorfii twarzy oraz wad mózgu, nerek i serca","synonyms":["TM2D3-related neurodevelopmental disorder"]},"cs":{"name":"Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome","synonyms":["TM2D3-related neurodevelopmental disorder"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","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":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"TM2D3","name":"TM2 domain containing 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"40449487[PMID]","hgnc":"24128","ensembl":"ENSG00000184277","omim":"610014","loci":["15q26.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}