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

More general terms

• microphthalmia (nanophthalmos)

Database

• OMIM: https://mirror.omim.org/entry/601349