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GENATLAS PHENOTYPE |
last update : 18-03-2009 |
Symbol | MRCCK |
Location | 4p12 |
Name | mental retardation, cataract, coloboma and kyphosis |
Corresponding gene | SRD5A3 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | neurology |
mental retardation | |
Type | MCA/MR |
Remark(s) |