is an inherited eye disorder affecting the retina, choroid, and vision.

is a rare genetic condition causing hearing, vision, and blood-sugar problems.

causes tightly curled scalp hair from birth; autosomal dominant.

is a genetic porphyria causing painful sunlight sensitivity and occasional liver problems.

is an autosomal genetic condition causing variable symptoms and organ involvement.

is a genetic bleeding disorder causing factor VIII deficiency and easy bleeding.

is an inherited skin condition causing widespread dry, scaly skin.

is a rare inherited skin disorder causing severe scaling and life-threatening complications.

is a rare inherited skin disorder causing widespread scaling and additional features.

is a rare genetic condition causing scaly skin (ichthyosis) and hair abnormalities.

is a rare inherited disorder causing scaly skin and significant neurologic problems.

is a genetic condition missing one non-sex chromosome, usually causing miscarriage.

is a genetic disorder causing kidney disease, hearing loss, and eye problems.

is a rare genetic disorder with missing limbs present at birth.

is an autosomal recessive disorder of anterior eye development causing vision problems.

is a rare genetic disorder causing coordination problems (ataxia) from PEX10 deficiency.

is a rare inherited balance and coordination disorder from PEX16-related peroxisome dysfunction.

is a rare autosomal recessive ataxia caused by PEX2 peroxisome defects.

is a rare inherited movement disorder caused by coenzyme Q10 (ubiquinone) deficiency.

is an inherited disorder causing balance problems and poor muscle coordination.

is a rare inherited nerve disease causing progressive weakness and numbness.

is a rare inherited nerve disease (neuropathy) affecting movement and sensation.

is a rare inherited nerve disorder causing weakness and muscle overactivity (neuromyotonia).

is an inherited eye disorder that affects the retina and vision.