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X-linked hydrocephalus syndrome
Relevant markers:
Adducted thumbFixed flexed thumbHigh riding 3rd ventricleSevere ventriculomegaly (>15 mm)Dilated 3rd ventricleAbsent cavum septum pellucidum (CSP)Parents markers:VentriculomegalyAgenesis of corpus callosum (ACC)
Incidence: - — 1/100000 Involved genes:
(gene — definition — chromosome)L1CAM — Xq28 Inheritance mode: X-linked Other online databases: OMIM, Jablonski's Database Links: www.sonoworld.com References: 2016 J Obstet Gynaecol Case report Read on PubMed Login for more details.