is a genetic seizure disorder that begins in infancy or early childhood.

is a rare genetic disorder causing seizures, developmental delays, and brain differences.

is a rare genetic disorder causing early seizures and developmental disability.

is a rare genetic syndrome causing severe seizures, blindness, and developmental disability.

is an inherited condition causing low aldosterone, salt loss, and dehydration.

is a childhood-onset movement disorder starting in limbs, spreading throughout the body.

is a rare inherited epilepsy causing early seizures, muscle jerks, and decline.

is a childhood cataract that clouds the eye's lens and blurs vision.

is a rare genetic disorder causing early muscle weakness and fatal cardiomyopathy.

is a rare genetic disorder causing weakness, absent reflexes, and breathing problems.

causes clouding of the eye's lens, leading to vision problems early.

is clouding of the eye's center that develops unusually early.

is a rare genetic syndrome causing severe hunger, obesity, and developmental delays.

is a rare genetic condition causing early movement problems and intellectual disability.

is clouding of part of the eye's lens starting early in life.

is a cataract causing early clouding at the back of the lens.

is a clouding at the back of the lens that starts early.

is a genetic disorder causing brain shrinkage, microcephaly, muscle weakness, and blindness.

is a brain disorder causing developmental decline and continuous shifting muscle jerks.

is a rare genetic disorder causing early brain dysfunction and hearing loss.

is a rare inherited brain and nerve disorder causing worsening movement problems.

is a rare genetic disorder causing early neurodegeneration, vision loss, ataxia, spasticity.

is a rare genetic condition causing seizures, limb differences, and delayed development.

is a rare inherited disorder causing movement problems, seizures, and nerve damage.