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| GENATLAS PHENOTYPE |
| last update : 27-02-2009 |
| Symbol | CCMC |
| Location | 16q16.3 |
| Name | congenital cataract - microcornea |
| Corresponding gene | MAF |
| Main clinical features | congenital cataract - microcornea |
| Genetic determination | autosomal dominant |
| Function/system disorder | eye |
| Type | malformation |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|
|
| in the basic region of the DNA binding domain (Hansen,07)
| |
| Remark(s) | mutations in other genes are also observed in CCMC |