Differences
This shows you the differences between two versions of the page.
| Both sides previous revision Previous revision Next revision | Previous revision | ||
| donnai_barrow_syndrome [2015/11/10 03:52] – external edit 127.0.0.1 | donnai_barrow_syndrome [2025/04/18 20:40] (current) – external edit 127.0.0.1 | ||
|---|---|---|---|
| Line 2: | Line 2: | ||
| * a.k.a. Faciooculoacousticorenal syndrome (FOAR) | * a.k.a. Faciooculoacousticorenal syndrome (FOAR) | ||
| - | ===== Main Features | + | ==== Main Features ==== |
| * Facial abnormalities | * Facial abnormalities | ||
| * Prominent Brow | * Prominent Brow | ||
| Line 15: | Line 15: | ||
| * Renal problems | * Renal problems | ||
| * Proteinuria | * Proteinuria | ||
| - | ===== Major Ocular Features | + | ==== Major Ocular Features ==== |
| * Hypertelorism | * Hypertelorism | ||
| * High myopia | * High myopia | ||
| Line 28: | Line 28: | ||
| * Retinal dystrophy | * Retinal dystrophy | ||
| - | ===== Other Features | + | ==== Other Features ==== |
| * Diaphragmatic hernia | * Diaphragmatic hernia | ||
| * Omphalocele | * Omphalocele | ||
| Line 35: | Line 35: | ||
| * Corpus callosum partial or complete agenesis | * Corpus callosum partial or complete agenesis | ||
| - | ===== Cause ===== | + | ==== Cause ==== |
| * Mutation in the Low density lipoprotein receptor related protein 2 gene (LRP2) | * Mutation in the Low density lipoprotein receptor related protein 2 gene (LRP2) | ||
| | | ||
| - | ===== Resources | + | ==== Resources ==== |
| * [[http:// | * [[http:// | ||
| * [[http:// | * [[http:// | ||
| {{tag> | {{tag> | ||