is a rare condition causing absent sweating despite normal sweat glands.

is a genetic eye condition with partial or complete iris absence.

is a rare birth condition where thin bands partly join the eyelids.

is a rare condition with excess hair on the front neck.

is a rare brain difference affecting smell, often causing lifelong smell loss.

is a rare birth difference where the nose does not develop.

causes high muscle enzyme levels without symptoms or clear underlying disease.

is a rare inherited disorder that limits the body's energy production.

is a rare inherited kidney disorder causing low blood magnesium levels.

is a rare condition where both cerebellar hemispheres are underdeveloped.

is a rare newborn liver disease blocking bile ducts.

is a rare condition causing repeated painless eyelid swelling and drooping.

is a rare mast cell disorder mainly affecting the bone marrow.

is a rare condition where the cerebellum does not fully develop.

is a rare birth difference where the brain's vermis fails to develop.

is an underdeveloped central cerebellum that can affect balance and coordination.

is a motor speech disorder that makes planning speech movements difficult.

is an inherited eye disorder that gradually damages the retina and vision.

is a birth difference where the upper lip does not fully form.

is a rare mitochondrial disorder that affects energy production and symptoms vary.

is a rare inherited disorder that reduces cells' energy production.

is a rare inherited absence of fingerprints, usually without other symptoms.

is a rare birth condition where the tongue is missing.

is a rare condition where babies are born without normal tears.