Microphthalmia, Syndromic 8
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References
Vervoort VS, Viljoen D, Smart R, Suthers G, DuPont BR, Abbott A, Schwartz CE. Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype. J Med Genet. 2002 Dec;39(12):893-9.
PubMedID: 12471201
Van Den Ende JJ, Van Der Burgt CJ, Jansweijer MC, Hamel BC, Brunner HG. Ectrodactyly of lower limbs, congenital heart defect and characteristic facies in four unrelated Dutch patients: a new association. Clin Dysmorphol. 1996 Jan;5(1):1-7.
PubMedID: 8867653