is a genetic bone disorder causing short trunk, spinal curvature, and pain.

is a rare inherited muscle disease causing early-onset weakness and hypotonia.

is a genetic nerve disorder causing progressive balance and coordination problems.

is an inherited disorder causing balance and coordination problems from DNA-repair defects.

is a rare autosomal recessive disorder causing cerebellar coordination problems (ataxia).

is a rare autosomal recessive disorder causing progressive balance and coordination problems.

is a genetic disorder causing balance problems and later muscle stiffness.

is a rare inherited disorder causing coordination problems, seizures, and learning difficulties.

is an autosomal recessive disorder causing coordination problems, seizures, and intellectual disability.

is a rare, autosomal recessive disorder causing ataxia, epilepsy, intellectual disability.

is a rare inherited WWOX-related disorder causing ataxia, epilepsy, developmental disability.

is a rare autosomal recessive disorder causing balance, coordination, and movement problems.

is a rare autosomal recessive disorder causing ataxia and developmental delays.

is an autosomal recessive neurologic disorder causing ataxia and eye movement problems.

is a rare inherited brain disorder causing coordination problems and developmental delays.

is a rare inherited disorder causing progressive brain shrinkage and neurologic problems.

is a rare inherited peripheral neuropathy causing progressive limb weakness and numbness.

is a rare inherited neuropathy causing limb weakness, sensory loss, and hoarseness.

is a rare inherited disorder causing vision loss (chorioretinopathy) and microcephaly.

is an inherited immune disorder causing recurrent, severe bacterial and fungal infections.

is an immune system disorder causing recurrent, severe bacterial and fungal infections.

is a rare inherited immune disorder causing recurrent bacterial and fungal infections.

is a genetic immune disorder causing recurrent infections and inflammation (granulomas).

is a rare inherited immune disorder causing recurrent severe infections and granulomas.