is an eye condition where the retina's center does not fully develop.

is a rare inability to sweat despite otherwise normal sweat glands.

is a rare genetic disorder affecting how the body processes glycerol.

is a rare inherited disorder causing growth hormone deficiency and short stature.

is a rare genetic disorder causing low growth hormone and short stature.

causes low growth hormone levels, leading to short stature and slow growth.

is a rare inherited disorder causing too little growth hormone.

is a rare condition affecting the structure and strength of hair.

causes one side of the body to grow larger than the other.

is a rare inherited condition causing facial weakness or paralysis from birth.

is a rare inherited condition causing unusually large platelets and bleeding tendency.

is a rare condition causing unusually salty sweat without other major symptoms.

is a group of inherited eye conditions causing vision loss.

is a rare eye condition where the iris splits into strands.

is a rare condition where some neck bones are fused from birth.

is a rare birth condition where left-sided features develop on both sides.

is a rare brain development disorder causing a smooth brain and delays.

is an inherited eye condition that affects the central part of vision.

is a condition where the brain is larger than usual.

is an eye finding with an unusually large optic nerve head.

is a rare, usually slow-growing nerve tumor that contains dark pigment.

is a blood clot in intestinal veins that can reduce blood flow.

is a rare adrenal disorder that can cause too much cortisol.

is a condition where one or both eyes are unusually small.