| http://www.w3.org/ns/prov#value | - The importance of ocular anomalies that differs and are more severe than those observed in Down syndrome is underlined.Another boy with a missense mutation [20] showed HSCR, corpus callosum hypoplasia, epilepsy and severe mental retardation, but also other anomalies such as cleft lip and palate, brachytelephalangy, and broad thumbs and halluces.
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