is a severe X-linked disease causing childhood brain inflammation and myelin loss.

is a rare inherited disorder affecting brain, balance, vision, and development.

is an inherited nerve disorder causing muscle weakness, foot problems, and numbness.

is an inherited nerve disorder causing progressive weakness and sensory loss.

is an inherited nerve disorder causing weakness, numbness, and muscle wasting.

is a rare inherited nerve disorder causing weakness, numbness, and walking problems.

is an inherited nerve disorder causing muscle weakness and sensory loss.

is a rare inherited nerve disorder causing weakness, numbness, and vision problems.

is an inherited nerve disorder causing muscle weakness, sensory loss, and vision problems.

is a rare genetic disorder affecting bone, skin, and eye development.

is an inherited immune disorder causing frequent, serious bacterial and fungal infections.

is an inherited disorder causing severe bowel movement problems without blockage.

is a rare genetic condition causing cleft palate and tongue-tie.

is a rare condition causing small eyes, microcephaly, developmental disability, short stature.

is a genetic disorder causing progressive leg stiffness, weakness, and nerve problems.

is a rare inherited brain development disorder affecting the corpus callosum.

is a rare inherited disorder causing stiffness, weakness, and other neurologic problems.

is an inherited eye condition causing nearsightedness and problems with color vision.

is an inherited eye disorder causing worsening central vision and color problems.

is an inherited eye disorder causing worsening color and central vision loss.

is an inherited eye disorder causing progressive loss of central vision.

is a rare inherited cause of male infertility from missing sperm ducts.

is a rare inherited condition causing excessive hair growth from birth.

is an inherited blood disorder where red blood cells break down early.