is a rare inherited disorder causing progressive muscle weakness and nerve damage.

is a genetic nerve disorder causing progressive distal muscle weakness and atrophy.

is an inherited muscle disease causing progressive weakness in hands and feet.

is an inherited kidney disorder causing acid buildup in the blood.

is a genetic movement disorder causing childhood-onset dystonia, improving with levodopa.

is an inherited telomere disorder causing blood, skin, nail, mouth problems.

is a rare inherited telomere disorder causing nail, skin, and marrow problems.

is an inherited telomere disorder causing skin, nail, mouth changes, marrow failure.

is a telomere disorder causing nail changes, skin findings, bone marrow failure.

is an autosomal-dominant telomere disorder causing nail, skin, bone-marrow failure.

is an inherited skin disorder causing fragile skin and recurring blisters.

is an inherited muscle disorder causing weakness, contractures, and heart rhythm problems.

causes progressive muscle weakness, early joint contractures, and heart rhythm problems.

is autosomal-dominant disorder causing muscle weakness, contractures, and heart rhythm problems.

is a genetic disorder with early contractures, muscle weakness, and arrhythmias.

is inherited muscle disorder causing early contractures, weakness, and heart problems.

is a genetic skin disorder with newborn blisters and lifelong scaling.

is an autosomal-dominant epilepsy with focal seizures and auditory auras.

is a rare autosomal-dominant nerve disorder causing severe gut motility problems.

is an inherited movement disorder causing focal involuntary muscle contractions (dystonia).

is an inherited skin condition causing thickened palms/soles and painful blisters.

is a hereditary skin condition causing widespread blistering, scarring, and nail changes.

is an autosomal-dominant skin condition causing widespread friction blisters, intermediate severity.

is an inherited (autosomal dominant) skin disorder causing severe, widespread blistering.