is an inherited eye disorder affecting the lens and supporting fibers.

is a genetic condition causing multiple birth defects and usually early death.

is an inherited disorder causing abnormal body fat loss and metabolic problems.

is a genetic condition causing tooth, gum, and other body differences.

is a genetic condition causing short stature and multiple birth differences.

is a genetic skin disorder affecting the dermis and causing varied symptoms.

is an inherited disorder that damages nerve cells controlling movement.

is a genetic disorder causing birth differences and distinctive physical features.

is a genetic condition causing birth differences without affecting intelligence.

is a genetic condition causing birth differences and developmental delay.

is an inherited condition that changes nail growth, shape, strength, or color.

is an inherited kidney disorder causing protein loss in urine and swelling.

is an inherited disorder affecting vision and the nervous system.

is an inherited disorder that gradually damages nerve cells and function.

is an inherited brain disorder that can cause progressive dementia.

is a usually inherited growth of hormone-producing nerve-endocrine cells.

is a rare inherited brain ion-channel disorder affecting nervous system function.

is an inherited disorder of nerve and muscle ion channels (channelopathy).

is a genetic disorder affecting nerves, muscles, movement, and sometimes breathing.

is a genetic disorder affecting nerve-muscle signaling and causing muscle weakness.

is an inherited disorder causing abnormal blood vessel growth in the brain.

is a group of inherited brain or spinal cord developmental abnormalities.

is an inherited form of obesity without other major medical features.

is a group of inherited kidney or urinary tract birth differences.