ClinVar Miner

List of intergenic variants reported as pathogenic for Failure to thrive; Weight loss; Feeding difficulties; Growth delay; Brachycephaly; Deeply set eye; Pointed chin; Narrow mouth; Agitation; Nephrolithiasis; Poor eye contact; Panhypopituitarism; Lower limb spasticity; Generalized myoclonic seizures; Episodic abdominal pain; Limb joint contracture; Upper limb spasticity; Prominent forehead; Severe global developmental delay; Decreased activity of mitochondrial complex III; Flat midface

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
Download table as spreadsheet

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.