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GENATLAS PHENOTYPE |
last update : 10-10-2015 |
Symbol | SEMD4 |
Location | 10q23.31 |
Name | spondyloepimetaphyseal dysplasia, type 4 |
Other name(s) | SEMD, Pakistani type |
Corresponding gene | PAPSS2 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | osteo-articular |
Type | disease |
Gene product |
Name | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| nonsense
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| SER438TER described in a large inbred kindred in Pakistan
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Remark(s) |