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| smith-magenis_syndrome [2025/06/13 20:10] – [References] Scott Larson | smith-magenis_syndrome [2026/07/27 12:09] (current) – [Eye Findings] Scott Larson | ||
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| Line 25: | Line 25: | ||
| * Strabismus (32%) | * Strabismus (32%) | ||
| * Esotropia > Exotropia > Hypertropia | * Esotropia > Exotropia > Hypertropia | ||
| - | * Microphthalmos (rare) | + | * [[microphthalmos|Microphthalmos]] (rare) |
| * Uveal and Retinal Coloboma (rare) | * Uveal and Retinal Coloboma (rare) | ||
| Line 33: | Line 33: | ||
| * Heterozygous deletion at chromosome 17p11.2 that includes RAI1 or a heterozygous intragenic RAI1 pathogenic variant. | * Heterozygous deletion at chromosome 17p11.2 that includes RAI1 or a heterozygous intragenic RAI1 pathogenic variant. | ||
| ==== References ==== | ==== References ==== | ||
| - | - [[https:// | + | - [[https:// |
| + | - [[https:// | ||
| {{tag> | {{tag> | ||