Login to search by marker and hierarchy!
-
Aicardi-Goutieres syndrome
Relevant markers:
Delayed closure of the Sylvian fissureMicrocephalyMicroencephalyPeriventricular haloPeriventricular pseudocystEchogenic bowelHepatomegalySplenomegalyParents markers:Cerebral CalcificationIntrauterine growth retardation (IUGR/SGA/FGR)
Involved genes:
(gene — definition — chromosome)RNASEH2B — RIBONUCLEASE H2, SUBUNIT B — 13q14.3 Inheritance mode: AR Other antenatal testing: raised interferon α level in the fetal blood References: 2015 J Ultrasound Med Case report Read on PubMed Login for more details.