is a rare genetic disorder causing limb shortening and abnormal bone fusion.

is a rare bone growth disorder causing shortened arms and legs.

is a very rare genetic condition affecting limb growth, palate, and fingers.

is a rare genetic condition causing shortening of the middle limbs.

is a rare genetic condition causing limb, finger, and learning differences.

is a rare genetic disorder causing shortened middle limbs and short stature.

is a rare genetic bone disorder affecting the middle parts of limbs.

is a rare genetic bone disorder causing shortened forearms and lower legs.

is when too much acid builds up in the body fluids.

is a rare metabolic disorder that impairs how the body uses fats.

is a rare metabolic disorder that disrupts important brain chemical production.

is a rare inherited disorder affecting metabolism and causing cataracts.

is a group of inherited disorders that can affect thinking and memory.

is a group of metabolic disorders that can affect the intestines.

is a group of disorders affecting metabolism and often causing skin changes.

are inherited disorders that disrupt body chemistry and can cause seizures.

is liver damage linked to both metabolic problems and alcohol use.

is liver inflammation and damage caused by fat buildup.

is fat buildup in the liver linked to metabolic health problems.

is a group of inherited muscle disorders that affect energy use.

is a rare inherited muscle disorder causing exercise intolerance and painful cramps.

is a rare brain-related disorder affecting chemical signaling and causing seizures.

is a rare inherited bone disorder causing cartilage tumors (enchondromas, osteochondromas).

is a rare inherited disorder that damages nerves and worsens over time.