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tarp_syndrome [2025/05/18 23:55] – [Other Findings] Scott Larsontarp_syndrome [2025/06/14 02:21] (current) – [Resources] Scott Larson
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   * Optic nerve hypoplasia (56%)   * Optic nerve hypoplasia (56%)
   * Cortical visual impairment    * Cortical visual impairment 
-  * Esotropia+  * Hypertelorism
 ====Other Findings==== ====Other Findings====
 {{::tarp_syndrome.png?600| }} {{::tarp_syndrome.png?600| }}
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   * 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====
-  +  - [[https://1drv.ms/b/c/31d83ae8e55e0542/EW8YFXEcDANOieZakeZMU1MBayRLkdEKN9sGCofnA6lY8w?e=c97hIn |Kumps C. et al. Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features. Clinical Genetics 2021;99:449-456.]]
  
 {{tag>syndrome}} {{tag>syndrome}}