Login to search by marker and hierarchy!
-
Joubert syndrome
Relevant markers:
Agenesis of vermisDandy Walker malformationEchogenic kidney/sHypertelorismHypoplasia/partial agenesis of vermisMega cisterna magnaMicrognathia/retrognathiaMicropenisMolar tooth signMulticystic dysplastic kidney/sNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPolyhydramniosRenal cyst/sCephaloceleParents markers:Agenesis of corpus callosum (ACC)CleftEncephalocelePolydactyly of foot/feetPolydactyly of hand/sVentriculomegaly
Incidence: 1/100000 — - Involved genes:
(gene — definition — chromosome)INPP5E — 9q34.3 Inheritance mode: AR Other online databases: OrphaNet, OMIM, Geneva Foundation, Jablonski's Database Links: www.sonoworld.com, sonoworld.com References: 2011 Neuropediatrics Two cases Read on PubMed 2011 Ultrasound Obstet Gynecol Case report Read on PubMed 2012 J Turk Ger Gynecol Assoc Review Read on PubMed 2014 Fetal Diagn Ther Case report Read on PubMed 2014 Ultrasound Obstet Gynecol Case series Read on PubMed Login for more details.