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| content:martsolf_syndrome [2020/02/21 09:49] – created bijuhameed | content:martsolf_syndrome [2020/02/21 10:06] – bijuhameed |
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| ====== Martsolf syndrome ====== | ====== Martsolf syndrome ====== |
| 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[(:cite:2738902>{{pubmed>2738902}})]. | [{{ :content:autorecessive.jpeg?direct&400|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[(:cite:2738902>{{pubmed>2738902}})].[(:cite:17394201>{{pubmed>17394201}})] |
| Gene:RAB3GAP2 | |
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| | Gene:RAB3GAP2[(:cite:16532399>{{pubmed>16532399}})] |
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| | OMIM:[[https://omim.org/entry/212720|212720]] |
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| | ==== Resources ==== |
| | [[https://rarediseases.info.nih.gov/diseases/3406/martsolf-syndrome|Martsolf syndrome]] |
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| | ==== References ==== |
| | ~~REFNOTES~~ |
