is a recessive genetic disorder causing progressive lower-limb stiffness and neurologic issues.

is a rare inherited nerve disorder causing progressive leg stiffness, weakness.

is an inherited condition where males lack both vas deferens, causing infertility.

is a rare inherited disorder causing early-life balance and coordination problems.

causes early-onset cerebellar coordination and balance problems from recessive GRID2 mutations.

is a rare inherited disorder causing early-onset cerebellar ataxia and coordination problems.

is a genetic skin disorder present at birth, causing dry, scaly skin.

is a rare inherited skin disorder causing thick, dry, scaly skin.

is a rare inherited skin disorder causing lifelong dry, thick, scaly skin.

is a rare inherited skin disorder causing thick, scaly skin from birth.

is a rare autosomal recessive skin disorder causing lifelong dry, scaly skin.

is an inherited skin disorder causing widespread dry, thick, scaly skin.

is an inherited skin disorder causing lifelong thick, scaly skin from birth.

is an inherited skin disorder causing dry, thick, scaly skin from birth.

is a rare inherited skin disorder present at birth with widespread scaling.

is an autosomal-recessive skin disorder causing thick, scaly skin from birth.

is a rare skin condition present at birth, causing thick, scaly skin.

is an inherited skin disorder present from birth, causing thick, scaly skin.

is a rare inherited skin disorder causing thick, scaly skin from birth.

is an inherited condition with from-birth involuntary eye movements (nystagmus) reducing vision.

is a rare inherited bone disorder causing skull thickening and limb deformities.

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

is a rare genetic connective tissue disorder causing sagging skin and complications.

is a rare inherited disorder causing loose skin and developmental delays.