Login to search by marker and hierarchy!
-
Meier–Gorlin syndrome 3
Relevant markers:
ClubfootMicropenisMicrognathia/retrognathiaChoroid plexus cyst (CPC)Nuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaRhizomelia/short femurGenu recurvatum of kneeParents markers:Intrauterine growth retardation (IUGR/SGA/FGR)
Involved genes:
(gene — definition — chromosome)ORC6 — ORIGIN RECOGNITION COMPLEX, SUBUNIT 6, S. CEREVISIAE, HOMOLOG OF — 16q11.2 Inheritance mode: AR Other online databases: OMIM References: 2015 Am J Med Genet A Case report - 3 cases from same family Read on PubMed Login for more details.