is a rare congenital extra heart valve tissue affecting tricuspid function.

is inward eye turning when focusing, often from farsightedness (hyperopia).

is an eye focusing problem causing intermittent blurry vision, eyestrain, headaches.

is a rare inherited disorder causing iron buildup in brain, liver, pancreas.

is a rare genetic muscle disorder causing stiffness (myotonia) eased by acetazolamide.

is a rare genetic condition with swallowing trouble (achalasia), microcephaly, developmental delays.

is a rare genetic disorder causing swallowing difficulty and small head size.

is a rare hormonal disorder causing diabetes and excess facial hair (hirsutism).

is a congenital absence of one or both hands.

is a rare genetic disorder causing missing hands and feet.

is a rare inherited condition causing absent hands and feet at birth.

is a benign, self-limiting cause of sudden finger bruising and pain.

is inflammation of the heel bursa causing pain, swelling, and stiffness.

is a rare genetic disorder causing skeletal underdevelopment, often fatal in newborns.

is a rare, severe genetic disorder affecting fetal bone development; usually fatal.

is a rare, severe genetic bone growth disorder, often fatal at birth.

is a rare, severe skeletal disorder, often fatal at or before birth.

is a rare, severe skeletal disorder, often fatal at or before birth.

is a rare, autosomal recessive skeletal disorder, often fatal at birth.

is a rare, severe genetic skeletal disorder, often fatal at birth.

is an inherited eye condition causing color blindness and light-sensitive vision.

is an inherited cone disorder causing complete color blindness, light sensitivity, nystagmus.

is a rare inherited eye disorder causing color blindness and light sensitivity.

is a rare inherited eye disorder with color blindness and reduced vision.