Caucasus University - SPTBN1 Mutation

Dr Konstantine Chakhunashvili
kchakhunashvili@cu.edu.ge

Dataset ID	Description	Technology	Samples
EGAD50000001726	The dataset consists of exome sequencing data from a male patient with a maternally inherited SPTBN1 mutation. The clinical presentations include autism spectrum disorder, cognitive delay, feeding difficulties, gastrointestinal manifestations, and musculoskeletal abnormalities.	unspecified	1