microphthalmia, syndromic type 8
microphthalmia, syndromic type 8A very rare congenital syndrome (OMIM:601349) characterised by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and possibly mental retardation.
Caused by defects of SNX3, which encodes a phosphoinositide-binding protein required for multivesicular body formation and protein trafficking between cellular compartments.
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