microphthalmia, syndromic, type 11

An 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.

Molecular pathology
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.

单词	microphthalmia, syndromic, type 11
释义	microphthalmia, syndromic, type 11 microphthalmia, syndromic, type 11 An 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. Molecular pathology 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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