Differences

This shows you the differences between two versions of the page.

--- hnrnpu_related_disorder [2025/03/02 21:30] – Scott Larson
+++ hnrnpu_related_disorder [2025/04/18 20:40] (current) – external edit 127.0.0.1
@@ Line 1: / Line 1: @@
 ====== HNRNPU-related disorder ======
+====Main Features====
+  * Developmental Delay especially speech
+  * Seizures
+====Eye Findings====
+  * Esotropia 30%
+====Other Findings====
+  * Abnormal facial features
+  * Hypotonia
+  * Autism
+====Etiology====
+  * Mutations in the HNRNPU gene- 1q44
+  * Autosomal Dominant
+====Resources====
+  * [[https://rarediseases.org/rare-diseases/hnrnpu-related-disorder|NORD reference page]]
+{{tag>syndrome}}
-<http>
-<a href="https://rarediseases.org/rare-diseases/hnrnpu-related-disorder/#symptoms">NORD Reference Page</a>
-</http>

syndrome