is a rare genetic disorder affecting movement, learning, and brain white matter.

is a rare inherited brain disorder causing early developmental loss and seizures.

is a rare inherited disorder causing fat buildup in organs and brain.

is a rare inflammatory disease affecting fat tissue, eyes, and organs.

is a rare inherited disorder causing overly dense bones and nerve damage.

is a rare genetic movement disorder in infancy causing parkinsonism and dystonia.

is a rare inherited disorder affecting growth, vision, hearing, and development.

is a seizure disorder in babies that can affect development.

is a rare genetic condition causing infantile spasms and broad thumbs.

is a rare genetic brain disorder causing infantile spasms and developmental delay.

is a rare inherited disorder causing painful skin, joints, and organs.

is a rare genetic disease with progressive ascending spastic paralysis from infancy.

is a rare inherited disorder causing early childhood balance and coordination problems.

is a rare inherited disorder causing nerve damage, weakness, and vision loss.

is a rare muscle disease causing early weakness in hands and feet.

is rare movement disorder causing involuntary body and facial movements in infancy.

is a rare infant epilepsy causing seizures and severe developmental regression.

is a rare inherited autoinflammatory disease causing infant fevers and skin inflammation.

is a rare inherited disorder causing lung protein buildup and low antibodies.

is a rare inherited disorder causing balance problems and delayed development.

is a rare inherited disorder causing infant muscle weakness and breathing problems.

is a fluid-filled sac around the testicle that becomes infected.

is a rare kidney condition causing anemia, low platelets, and kidney injury.

is an eye infection causing painful inflammation in the front eye.