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 MG, Baraitser M, Wilson J. Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome. J Med Genet. 1989 Jun;26(6):397-400. doi: 10.1136/jmg.26.6.397.
2. a Ehara H, Utsunomiya Y, Ieshima A, Maegaki Y, Nishimura G, Takeshita K, et al. Martsolf syndrome in Japanese siblings. Am J Med Genet A. 2007 May 1;143A(9):973-8. doi: 10.1002/ajmg.a.31626.
3. a Aligianis IA, Morgan NV, Mione M, Johnson CA, Rosser E, Hennekam RC, et al. Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. Am J Hum Genet. 2006 Apr;78(4):702-7. doi: 10.1086/502681. Epub 2006 Feb 14.
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