Martsolf syndrome

Definition:

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.

References:

[1]. Guntram Borck, et al. A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. Hum Genet. 2011 Jan;129(1):45-50. [Content Brief]

[2]. Hiroaki Ehara, et al. Martsolf syndrome in Japanese siblings. Am J Med Genet A. 2007 May 1;143A(9):973-8. [Content Brief]

[3]. Irene A Aligianis, 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. [Content Brief]

[4]. M G Harbord, et al. Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome. J Med Genet. 1989 Jun;26(6):397-400. [Content Brief]

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