{"orpha":729761,"name":"Sandestig-Stefanova syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Microphtalmia-craniofacial dysmorphism-neurological anomalies-congenital heart defect syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-729761/","orphanet_url":"https://www.orpha.net/en/disease/detail/729761","names":{"fr":{"name":"Syndrome de Sandestig-Stefanova","synonyms":["Syndrome de microphthalmie-anomalie craniofaciale-atteintes neurologiques-malformation cardiaque congénitale"]},"de":{"name":"Sandestig-Stefanova-Syndrom","synonyms":["Mikrophthalmie-kraniofaziale Dysmorphie-neurologische Anomalien-kongenitale Herzfehler-Syndrom"]},"es":{"name":"Síndrome de Sandestig-Stefanova","synonyms":["Síndrome de microftalmia-dismorfia craneofacial-anomalías neurológicas-cardiopatía congénita"]},"it":{"name":"Sindrome di Sandestig-Stefanova","synonyms":["Sindrome microftalmia-dismorfismi craniofacciali-anomalie neurologiche-cardiopatia congenita"]},"nl":{"name":"Syndroom van Sandestig-Stefanova","synonyms":["Microftalmie - craniofaciae dysmorfie - neurologische anomalieën - congenitaal hartdefect-syndroom"]},"pt":{"name":"Sandestig-Stefanova syndrome"},"pl":{"name":"Sandestig-Stefanova syndrome","synonyms":["Microphtalmia-craniofacial dysmorphism-neurological anomalies-congenital heart defect syndrome"]},"cs":{"name":"Sandestig-Stefanova syndrome","synonyms":["Microphtalmia-craniofacial dysmorphism-neurological anomalies-congenital heart defect syndrome"]}},"xrefs":[{"source":"OMIM","code":"618804","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":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":519272,"name":"Structural developmental eye defect","classifications":[147,189]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"NUP188","name":"nucleoporin 188","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"40859750[PMID]","hgnc":"17859","ensembl":"ENSG00000095319","omim":"615587","loci":["9q34.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"36158058[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"36158058[PMID]_ORPHANET"}],"phenotypes":null}