is a rare heart birth defect affecting coronary venous drainage.

is a birth defect affecting major heart arteries and blood flow.

is a birth defect affecting major veins carrying blood to heart.

is a birth defect of the main lower-body vein (inferior vena cava).

is a birth defect of tricuspid valve chords (chordae), affecting blood flow.

is a critical newborn heart defect blocking flow through the aortic valve.

is a birth defect of the aortic valve affecting blood flow.

is a birth defect narrowing the aortic valve and blocking blood flow.

is a rare birth heart defect forming an opening between major arteries.

is absence of the eye’s lens at birth, causing severe vision problems.

is a rare congenital eye disorder causing severe vision impairment and anomalies.

is an abnormal artery-vein connection at birth that may overload the heart.

is a rare genetic disorder causing severe anemia and iron overload.

is a rare inherited bleeding disorder with low, small platelets.

is a rare genetic disorder causing early nerve and brain problems.

causes absent sperm ducts from birth, leading to infertility (azoospermia).

is a rare birth condition causing enlarged kidney collecting chambers (calyces) bilaterally.

is a rare inherited disorder causing bile flow blockage (cholestasis) in infancy.

is a rare autosomal recessive liver disorder disrupting bile acid production.

is a rare inherited liver disorder with defective bile acid synthesis.

is a rare inherited liver disorder causing infantile cholestasis and vitamin deficiencies.

is a rare genetic liver disorder impairing bile acid production and flow.

is a rare genetic liver disease causing infant cholestasis and malabsorption.

disrupts bile acid production, causing infant bile backup (cholestasis) and liver disease.