is a rare urea cycle disorder causing high arginine and ammonia levels.

is a rare inherited urea cycle disorder causing toxic ammonia buildup.

is a pupil problem: near focus (accommodation) works, light response absent.

is bluish-gray skin discoloration from silver exposure; usually permanent and cosmetic.

is a structural brain difference where lower cerebellum extends into spinal canal.

is a rare genetic condition causing low estrogen and excess androgens.

is a rare genetic condition causing excess estrogen, early puberty, and gynecomastia.

is a rare genetic disorder disrupting neurotransmitters, causing movement and developmental problems.

is a rare birth disorder causing no nose, airway blockage, small eyes.

is an inherited heart muscle disease causing dangerous arrhythmias and cardiac arrest.

is an inherited heart muscle disease causing irregular rhythms and right-ventricular scarring.

is an inherited heart condition causing right-ventricular scarring and dangerous arrhythmias.

is an inherited heart muscle disorder causing arrhythmias and right ventricular scarring.

is an inherited heart muscle disease causing right-ventricular scarring and dangerous arrhythmias.

is an inherited heart muscle disease (cardiomyopathy) causing arrhythmias and heart failure.

is a genetic heart muscle disease causing dangerous rhythms and right-heart dysfunction.

is an inherited heart muscle disorder causing dangerous arrhythmias and heart failure.

is an inherited heart muscle disease causing abnormal heart rhythms and fainting.

is an inherited heart muscle disorder causing right-ventricular scarring and arrhythmias.

is an inherited heart muscle condition causing right-ventricular scarring and arrhythmias.

is a genetic heart muscle disease causing arrhythmias and right ventricular cardiomyopathy.

is an inherited heart muscle disease affecting the right ventricle, causing arrhythmias.

is a rare genetic disorder causing arterial dissections and multiple skin lentigines.

is a congenital heart defect of the ductus arteriosus (PDA).