is a genetic muscle disorder causing weakness from birth or infancy.

is a rare inherited eye condition causing benign growths on the cornea.

is a genetic disorder affecting brain development, learning, speech, and behavior.

is an inherited X-linked condition that causes hearing loss.

is an inherited form of hearing loss that mainly affects males.

is an inherited X-linked condition that causes hearing loss.

is a rare inherited condition causing hearing loss, usually in males.

is an inherited condition causing hearing loss, usually in boys and men.

is an inherited heart muscle disease that weakens the heart's pumping.

is an inherited nerve disorder causing progressive weakness in hands and feet.

is a rare X-linked nerve disorder causing progressive distal muscle weakness.

is a rare genetic disorder affecting bone growth, skin, and eyes.

is a rare inherited bone disorder causing short stature and skeletal changes.

is caused by a dominant gene change on the X chromosome.

is a genetic disorder causing low phosphate, soft bones, and short stature.

is an inherited blood disorder causing anemia, low neutrophils, and platelet problems.

is an inherited telomere disorder causing bone marrow failure and skin changes.

is a rare inherited movement disorder causing dystonia and parkinsonism.

is a rare inherited connective tissue disorder causing loose joints and bruising.

is an X-linked disorder causing muscle weakness, contractures, and irregular heart rhythms.

is an inherited muscle disorder causing joint stiffness, weakness, and heart problems.

is an inherited muscle disorder causing joint stiffness, weakness, and heart problems.

is a rare inherited eye disorder causing cloudy corneas and vision loss.

is a rare inherited disorder causing seizures, learning difficulties, and behavior problems.