content:martsolf_syndrome

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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 2738902
2. a 17394201
3. a 16532399
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