Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 2 publications
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
Journal: Cold Spring Harbor molecular case studies
Published: May 02, 2017
Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability.
Journal: American journal of medical genetics. Part A
Published: July 21, 2015
Showing 1-2 of 2
Last Updated: 09/26/2026