Search results for PLOD1

Gene symbol Genotype Mutation consequence Disease Panels Go to page
PLOD1 biallelic_autosomal absent gene product PLOD1-related EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM DD,Eye
PLOD1 biallelic_autosomal absent gene product PLOD1-related Kyphoscoliotic Ehlers Danlos Syndrome Skin