is a genetic condition with small head size and learning difficulties.

is a genetic condition with protruding jaw (prognathism), inherited dominantly.

is inherited, causing limited eye movement and droopy eyelids (ptosis).

is a genetic disorder causing slowly worsening eyelid droop and eye-movement weakness.

is a mitochondrial disorder causing progressive eyelid drooping and limited eye movements.

is a dominantly inherited mitochondrial disorder causing progressive eye-movement weakness and ptosis.

is an autosomal-dominant disorder causing progressive eye-movement weakness from mitochondrial DNA deletions.

is a genetic disorder causing progressive eye movement weakness and droopy eyelids.

is a hereditary kidney disease causing progressive damage and high blood pressure.

is a genetic kidney disorder causing bicarbonate loss and acidic blood.

is a genetic disorder causing progressive muscle weakness of hips and shoulders.

is a hereditary nerve disorder causing progressive leg stiffness and weakness.

is an inherited eye condition causing retinal tears, detachment, and vision loss.

is a genetic condition causing short stature, limb differences, and facial features.

is an inherited condition causing high red blood cells from excess erythropoietin.

is a rare inherited nerve disorder causing progressive balance loss and numbness.

is an inherited disorder causing very low neutrophils and recurrent severe infections.

is a genetic blood disorder causing anemia and possible iron overload.

is an inherited condition causing slow peripheral nerve signals, weakness, numbness.

is an inherited movement disorder causing stiffness (spasticity) and poor coordination (ataxia).

is a progressive inherited brain disorder causing muscle stiffness, poor coordination, falls.

is a genetic disorder causing progressive leg stiffness, weakness, and gait problems.

is a hereditary nerve disorder causing progressive leg stiffness (spasticity) and weakness.

is a hereditary nerve disorder causing progressive leg stiffness and weakness.