is a rare inherited immune disorder causing life-threatening infections and inflammation.

is a rare inherited immune disorder causing severe reactions to certain infections.

is a rare inherited immune disorder causing severe reactions to infections.

is a rare genetic condition affecting facial development, often with hearing loss.

is a rare inherited immune disorder causing unusual vulnerability to mycobacterial infections.

is an inherited immune disorder causing unusual vulnerability to certain mycobacterial infections.

is a rare inherited immune disorder causing unusual vulnerability to mycobacterial infections.

is an inherited condition causing developmental delays, cerebellar underdevelopment, and facial differences.

is a rare inherited condition causing low muscle tone and learning difficulties.

is an inherited disorder linked to small head size and poor growth.

is a genetic condition caused by a change in one X-linked gene.

is a rare inherited skin disorder causing thickened palms, soles, and plaques.

is a rare inherited muscle disease that causes progressive weakness.

is a rare X-linked muscle disease causing progressive postural muscle weakness.

is a rare genetic disorder causing severe muscle weakness and genital differences.

is an inherited kidney disorder causing excessive urination and extreme thirst.

is an inherited kidney disorder that causes recurrent kidney stones and damage.

is a rare inherited disorder affecting the brain and nervous system.

is a rare inherited disorder that causes progressive brain and nerve problems.

is a rare inherited condition causing lifelong balance and coordination problems.

is an inherited condition causing intellectual disability without other major physical features.

is a genetic bone disorder causing fragile bones and repeated fractures.

is an inherited disorder causing low pituitary hormones, growth, and development problems.

is a rare inherited brain disorder causing parkinsonism, stiffness, and muscle spasticity.