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| content:martsolf_syndrome [2020/02/21 10:20] – bijuhameed | content:martsolf_syndrome [2022/04/30 11:31] (current) – administrator@icnapedia.org |
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| ====== Martsolf syndrome ====== | ====== Martsolf syndrome ====== |
| [{{ :content:autorecessive.jpeg?direct&200|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}})] | [{{ :content:autorecessive.jpeg?direct&200|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>{{pmid>2738902}})].[(:cite:17394201>{{pmid>17394201}})] |
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| Gene:RAB3GAP2[(:cite:16532399>{{pubmed>16532399}})] | Gene:RAB3GAP2[(:cite:16532399>{{pmid>16532399}})] |
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| OMIM:[[https://omim.org/entry/212720|212720]] | OMIM:[[https://omim.org/entry/212720|212720]] |
