Show pageOld revisionsBacklinksBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ====== 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}} syndrome