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Shprintzen syndrome
Relevant markers:
High riding 3rd ventricleHypokinesiaMild ventriculomegaly (12-15 mm)Parents markers:BrainMacrocephalyPyelectasis/hydronephrosisCleft palate
Involved genes:
(gene — definition — chromosome)deletion of chromosome 22q11.21-q11.23 Inheritance mode: AD Other online databases: OrphaNet, OMIM References: 1978 Cleft Palate J. 1978 review Read on PubMed Login for more details.