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

is a rare inherited disease causing progressive eye-movement weakness and drooping.

causes progressive eye-movement weakness, droopy eyelids, and muscle fatigue from mitochondrial dysfunction.

is a rare genetic kidney disorder causing bicarbonate loss and metabolic acidosis.

is an autosomal recessive condition causing progressive leg stiffness and weakness (spasticity).

is a rare inherited blood disorder causing transfusion-dependent, vitamin B6–resistant anemia.

is a rare inherited blood disorder with vitamin B6–resistant anemia, ring sideroblasts.

is a rare inherited disorder causing skeletal abnormalities, short stature, genital differences.

is an autosomal recessive disorder causing excess red blood cells, not VHL-related.

is an inherited disorder with very low neutrophils and recurrent infections.

is a rare inherited disorder causing dangerously low neutrophils and recurrent infections.

is a rare inherited immune disorder causing severe neutropenia and recurrent infections.

is a rare inherited disorder causing very low neutrophils and recurrent infections.

is a rare autosomal recessive congenital disorder causing severe neutropenia and infections.

is a rare inherited anemia with ring sideroblasts (iron-loaded precursors).

is an autosomal recessive disorder causing progressive balance problems and muscle stiffness.

is a rare inherited nerve disorder causing ataxia and muscle stiffness.

is a rare inherited disorder causing progressive balance, stiffness, and white-matter changes.

is a rare inherited disorder causing stiffness, coordination problems, vision loss, dysarthria.

is a rare inherited nerve disorder causing progressive leg stiffness (spasticity).

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

is a rare inherited neurological disorder causing progressive leg stiffness and weakness.

is a rare inherited disorder causing progressive leg stiffness and weakness.

is a rare inherited disorder causing progressive leg stiffness (spasticity) and weakness.