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syndromic microphthalmia 8
Epidemiology: very rare
Genetics:
- chromosomal translocation t(6;13)(q21;q12) involving SNX3
Clinical manifestations:
- congenital syndrome
- microcephaly
- microphthalmia
- ectrodactyly of the lower limbs
- prognathism
- intellectual deficit has been reported
General
microphthalmia (nanophthalmos)
Database Correlations
OMIM 601349
References
UniProt :accession O60493