is a rare inherited brain disorder causing developmental delays, low muscle tone.

is a rare genetic condition affecting brain development and coordination.

is a rare genetic condition affecting brain development, movement, breathing, and learning.

is a rare genetic condition affecting brain development and coordination.

is a rare genetic condition affecting brain development and causing coordination problems.

is a rare genetic disorder affecting brain development, movement, breathing, and vision.

is a rare genetic disorder affecting brain development, coordination, breathing, and vision.

is a rare cilia disorder (ciliopathy) affecting brain development, movement, and breathing.

is a rare genetic ciliopathy causing brain malformation, developmental delays, coordination issues.

is a rare genetic condition affecting brain development and body coordination.

is a rare inherited disorder affecting brain development, coordination, eyes, and breathing.

are rare genetic brain conditions affecting coordination, development, breathing, and eye movements.

is a rare genetic disorder affecting brain development and liver function.

is a rare inherited disorder affecting brain development, breathing, and chest growth.

is a rare genetic condition affecting brain development, movement, and vision.

is a rare genetic disorder affecting brain development, eyes, and kidneys.

is a rare genetic disorder affecting brain development and kidney function.

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

is a usually benign skull base tumor near nerves and blood vessels.

is an inherited skin condition causing fragile skin and widespread blistering.

is a rare inherited skin disorder causing painful blisters in body folds.

is an inherited skin disorder causing fragile skin and blistering.

is a rare inherited disorder causing skin blistering and newborn stomach blockage.

is a very rare genetic disorder with limited published medical information.