Table of Contents
HNRNPU-related disorder
Main Features
Eye Findings
Other Findings
Etiology
Resources
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
NORD reference page
syndrome