microphthalmia, syndromic, type 11
microphthalmia, syndromic, type 11An extremely rare condition (OMIM:614402) characterised by microphthalmia, small optic nerves, cleft lip and palate, absence of corpus callosum, hippocampal malformations and absence of the pineal gland.
Caused by defects of VAX1, which encodes a homeo-domain transcription factor required for axon guidance and major tract formation in the developing forebrain, neuroretina, pigmented epithelium and optic stalk.
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