is a genetic peripheral nerve disorder causing progressive weakness and numbness.

is an autosomal-dominant inherited nerve disorder causing progressive limb weakness, numbness.

is an inherited nerve disorder causing progressive weakness and numbness in limbs.

is an autosomal dominant peripheral neuropathy with progressive distal weakness, numbness.

is a hereditary nerve disorder causing progressive weakness, numbness, and foot problems.

is an autosomal-dominant nerve disorder causing progressive distal weakness and numbness.

is a rare autosomal-dominant motor neuron disease with childhood-onset proximal weakness.

is a rare inherited disorder affecting bones, skin, and eyes.

is a genetic heart defect causing narrowing of the aorta, autosomal dominant.

causes progressive leg stiffness and weakness with additional neurological symptoms.

is a hereditary spinal disorder causing early, usually nonprogressive muscle weakness.

is an inherited birth condition causing hearing loss and nail abnormalities (onychodystrophy).

is a rare inherited disorder causing skull/face bone overgrowth and nerve compression.

is a rare inherited (autosomal dominant) bone disorder causing skull thickening.

is a genetic connective tissue disorder causing loose, inelastic skin and complications.

is a genetic connective tissue disorder causing loose, sagging skin, hernias.

is a rare genetic disorder causing loose, sagging, easily wrinkled skin.

is an autosomal-dominant connective-tissue disorder causing loose, inelastic skin.

is a rare autosomal-dominant disorder causing hearing loss and nail abnormalities.

is a genetic skin disorder causing thick palms/soles, sometimes harming fingers/toes.

is an inherited condition passed from one affected parent (autosomal dominant).

is an inherited autosomal dominant disorder causing focal thickened palms and soles.

is an autosomal dominant condition causing punctate palmoplantar keratoderma (thickened palm/sole spots).

is an autosomal dominant condition causing thickened palms and soles (keratoderma).