is a rare inherited disorder causing progressive vision loss, seizures, and decline.

is a rare genetic disorder affecting the brain's white matter.

is a rare childhood autoimmune disease causing muscle weakness and overlap symptoms.

is a rare inherited bone disorder causing weak, enlarged, or misshapen bones.

is a rare autoimmune disease causing muscle inflammation and weakness in children.

is a rare inherited disorder causing early severe intestinal polyps.

is a genetic condition causing multiple intestinal polyps and cancer risk.

is an inherited condition causing gastrointestinal polyps and abnormal, fragile blood vessels.

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

is a rare inherited disorder causing vision problems and movement difficulties.

is a rare inflammation of the temples' blood vessels in young people.

is a rare, usually noncancerous testicular tumor most often found in infants.

is a rare, usually harmless skin condition causing yellowish bumps in children.

is a rare genetic disorder causing childhood diabetes and nerve degeneration.

is a rare movement disorder causing early Parkinson-like symptoms in children.

is an inherited disorder causing muscle weakness, delayed relaxation, and learning problems.

is a rare, usually benign cartilage tumor that grows beside bone.

is a rare bone surface cancer that makes cartilage-like tissue.

is a rare congenital heart abnormality often occurring with other heart defects.

is a genetic condition with distinct facial features and developmental delays.

is a rare genetic disorder affecting growth, development, and characteristic facial features.

is a rare genetic disorder affecting growth, development, and body features.

is a rare genetic imprinting disorder affecting growth, development, and breathing.

is a rare genetic disorder affecting growth, development, and the chest.