content:martsolf_syndrome

Martsolf syndrome

Autosomal recessive

Martsolf syndrome is a rare autosomal recessive condition that shows symptoms similar to Warburg Micro syndrome. It is characterized by severe mental retardation, congenital cataract, microcephaly, bone and joint anomalies, and genital hypoplasia[1].[2]

Gene:RAB3GAP2[3]

OMIM:212720


1. a Harbord M G et al. J Med Genet. 1989 Jun;26(6):397-400. PMID : 2738902
2. a Ehara Hiroaki et al. Am J Med Genet A. 2007 May 01;143A(9):973-8. PMID : 17394201
3. a Aligianis Irene A et al. Am J Hum Genet. 2006 Apr;78(4):702-7. PMID : 16532399
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