is a rare inherited disorder affecting protein digestion and amino acid transport.

is a rare inherited disorder causing harmful fat buildup in organs.

is a rare inherited disorder that affects lysosome function and overall health.

is a rare inherited disorder affecting how cells break down waste.

is a lysosomal disorder that can cause seizures and other symptoms.

is a lysosomal disease that can cause thickened heart muscle.

is a rare inherited disorder affecting cell recycling and heart function.

is a rare inherited disorder causing harmful glycogen buildup in cells.

is a rare inherited disorder caused by buildup of substances in cells.

is a genetic disorder causing harmful buildup in cells and bone problems.

is an inherited brain disorder causing worsening movement, balance, and coordination problems.

is an inherited brain disorder causing worsening movement, balance, and muscle stiffness.

is an inherited brain and nerve disorder causing worsening movement problems.

is an inherited nerve disorder causing worsening balance, coordination, and movement problems.

is a rare genetic condition causing a large head and developmental delays.

is a genetic condition causing a large head, developmental delays, and autism.

is a genetic syndrome causing large head size, developmental delay, and cardiomyopathy.

is a rare genetic condition causing large head, developmental delays, small chest.

is a genetic condition causing large head size, short stature, and paraplegia.

is a rare genetic disorder causing enlarged head size, stiffness, and dysmorphism.

is a lymph vessel disorder causing soft, fluid-filled cysts, usually from birth.

is a usually benign nerve sheath tumor with large fluid-filled spaces.

is a rare testicular germ cell tumor with large cyst-like spaces.

is anemia with unusually large red blood cells, often from vitamin deficiency.