====== 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}}