{"orpha":563612,"name":"Isolated exencephaly","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Isolated anencephaly/exencephaly","url":"https://raremap.alftech.space/d/ORPHA-563612/","orphanet_url":"https://www.orpha.net/en/disease/detail/563612","names":{"fr":{"name":"Exencéphalie isolée"},"de":{"name":"Exenzephalie, isolierte"},"es":{"name":"Exencefalia aislada"},"it":{"name":"Esencefalia isolata"},"nl":{"name":"Geïsoleerde exencefalie"},"pt":{"name":"Exencefalia isolada"},"pl":{"name":"Izolowana egzencefalia"},"cs":{"name":"Izolovaná exencefalie"},"uk":{"name":"Ізольована ексенцефалія"},"zh":{"name":"孤立性露脑畸形"},"tr":{"name":"İzole eksensefali"}},"xrefs":[{"source":"ICD-10","code":"Q00.0","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"LA00.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"63504770"},{"source":"MONDO","code":"0035402","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266453","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1048,"name":"Isolated anencephaly/exencephaly","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"MTHFR","name":"methylenetetrahydrofolate reductase","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"31516628[PMID]","hgnc":"7436","ensembl":"ENSG00000177000","omim":"607093","loci":["1p36.22"]},{"symbol":"VANGL2","name":"VANGL planar cell polarity protein 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"31516628[PMID]","hgnc":"15511","ensembl":"ENSG00000162738","omim":"600533","loci":["1q23.2"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-09-03","source":"22902849[PMID]_25551113[PMID]_30421543[PMID]","terms":[{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002683","label":"Abnormality of the calvaria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005466","label":"Hypoplasia of the frontal bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011821","label":"Abnormality of facial skeleton","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010627","label":"Anterior pituitary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030244","label":"Maternal fever in pregnancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011756","label":"Posterior pituitary agenesis","frequency":"Occasional (29-5%)","criteria":null}]}}