Differences
This shows you the differences between two versions of the page.
| Both sides previous revision Previous revision Next revision | Previous revision | ||
| tarp_syndrome [2025/05/18 23:54] – Scott Larson | tarp_syndrome [2025/06/14 02:21] (current) – [Resources] Scott Larson | ||
|---|---|---|---|
| Line 14: | Line 14: | ||
| * Optic nerve hypoplasia (56%) | * Optic nerve hypoplasia (56%) | ||
| * Cortical visual impairment | * Cortical visual impairment | ||
| - | * Esotropia | + | * Hypertelorism |
| ====Other Findings==== | ====Other Findings==== | ||
| - | * {{:: | + | {{:: |
| + | * From Kumps et al. 2021 | ||
| ====Etiology==== | ====Etiology==== | ||
| * X-linked pathologic variants of RBM10 gene | * X-linked pathologic variants of RBM10 gene | ||
| Line 22: | Line 23: | ||
| * As of 2021- 24 patients in 13 families have been described in the literature | * As of 2021- 24 patients in 13 families have been described in the literature | ||
| ====Resources==== | ====Resources==== | ||
| - | | + | |
| {{tag> | {{tag> | ||