is a rare inherited disorder causing worsening balance, coordination, and movement problems.

is an inherited disorder causing progressive leg stiffness, weakness, and walking problems.

is an X-linked recessive genetic disorder affecting mostly males.

is an inherited disorder causing low phosphate levels and soft, weak bones.

is an inherited eye condition causing reduced pigment and vision problems.

is a rare inherited condition affecting skin pigmentation and sometimes other organs.

is an inherited eye disorder that affects retinal development and vision.

is an X-linked eye disease causing retinal splitting and central vision loss.

is a rare inherited muscle disorder affecting shoulders and lower legs.

is a genetic immune disorder causing severe infections early in life.

is an inherited condition causing very low neutrophils and severe infections.

is a rare inherited disorder causing dangerous aortic enlargement and related problems.

is an inherited anemia where the body cannot make hemoglobin properly.

is a rare inherited disorder causing anemia and balance and movement problems.

is a rare inherited disorder causing anemia, balance problems, and coordination difficulties.

is a rare inherited disorder affecting bones, growth, and learning.

is an inherited nerve disorder causing progressive leg stiffness and walking problems.

is a rare inherited disorder causing leg stiffness, weakness, and walking problems.

is a rare inherited condition causing muscle stiffness, learning problems, and seizures.

is an inherited condition that can cause reduced or absent sperm production.

is an inherited condition that can cause reduced or absent sperm production.

is an inherited condition that can cause reduced or absent sperm production.

is a rare inherited nerve disorder causing balance, coordination, and movement problems.

is a rare inherited disorder causing balance, coordination, and sometimes hearing problems.