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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 14-10-2014 |
Symbol | MGORS1 |
Location | 1p32.3 |
Name | Meier-Gorlin syndrome 1 |
Corresponding gene | ORC1 |
Main clinical features |
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Genetic determination | autosomal recessive |
Function/system disorder | neuromuscular |
Type | disease |
Remark(s) |
. ORC1 mutations impair replication licensing, slowing cell cycle progression and consequently impeding growth during development, particularly at times of rapid proliferation (PMID: 21358633))
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