is a rare inherited eye disease causing night blindness and vision loss.

is a congenital split nasal tip, sometimes part of craniofacial syndromes.

is a split (cleft) uvula, often harmless, sometimes indicates submucous cleft palate.

is a rare peroxisomal disorder causing severe neurodevelopmental impairment and seizures.

is a rare, sudden loss of iris color in both eyes.

involves primary cancers in both breasts, simultaneous or at different times.

is a cortical malformation causing developmental delay, seizures, speech and motor issues.

is a brain malformation causing developmental delays, seizures, and movement problems.

is a brain malformation affecting both hemispheres, causing seizures and developmental delays.

is a rare disorder of both inner ears causing vertigo and imbalance.

is reduced inner ear function on both sides (bilateral vestibular hypofunction).

is life-threatening bleeding into both adrenal glands causing adrenal crisis.

involves benign tumors on both optic nerves, leading to progressive vision loss.

causes small outer ears (microtia), hearing loss, and cleft palate.

affects both kidneys with multiple cysts, causing little to no function.

is underdevelopment of both optic nerves, causing vision loss and hormonal problems.

is a brain cortex malformation causing developmental delays, seizures, and vision problems.

is a brain development disorder causing speech, swallowing, movement problems and seizures.

is a brain malformation with many small folds on both hemispheres.

is a hereditary childhood eye cancer affecting both eyes, requiring prompt treatment.

is a brain disorder with bilateral calcifications causing movement and cognitive symptoms.

is a rare inherited disorder causing impaired bile acid conjugation and cholestasis.

is a genetic liver disorder causing poor bile flow and malabsorption.

is a bile duct cancer (cholangiocarcinoma) that impairs bile flow.