is a rare inherited disorder causing developmental delay and intellectual disability.

is a rare autosomal recessive condition causing developmental delay and intellectual disability.

is an autosomal recessive genetic condition causing developmental delays and intellectual disability.

is an autosomal recessive disorder causing developmental delay and intellectual disability.

is a rare autosomal recessive disorder causing developmental delay, intellectual disability.

is a rare autosomal recessive disorder causing developmental delays and intellectual disability.

is a rare inherited condition causing global developmental delay and intellectual disability.

is a rare inherited condition causing developmental delay and intellectual disability.

is an autosomal recessive disorder causing intellectual disability and developmental delays.

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

is a rare inherited nerve disorder causing progressive weakness and sensory loss.

is a rare inherited nerve disorder (neuropathy) causing limb weakness and numbness.

is a rare inherited nerve disorder causing limb weakness and sensory loss.

is an inherited nerve disorder (neuropathy) causing progressive limb weakness and numbness.

is an autosomal recessive skin condition causing diffuse thickened palms and soles.

is a rare inherited eye condition causing lens dislocation and vision problems.

is an autosomal recessive disorder causing optic nerve degeneration and vision loss.

is a rare inherited disorder causing low calcium, seizures, and short stature.

is a rare autosomal recessive newborn sensorimotor nerve disease, usually fatal.

is an inherited condition causing white matter disease, strokes, and vision loss.

is an inherited muscle disease causing progressive hip and shoulder weakness.

is an inherited muscle disease causing weakness in the hips and shoulders.

is an inherited (autosomal recessive) disease weakening hip and shoulder (limb-girdle) muscles.

is a rare inherited disorder damaging lower motor neurons, beginning in childhood.