is a rare inherited movement disorder causing early, generalized dystonia and parkinsonism.

is a rare genetic movement disorder causing involuntary muscle contractions and abnormal postures.

is a rare neurologic disorder causing involuntary movements and loss of voice.

is a rare genetic movement disorder linked to high manganese levels.

causes high thyroid hormone levels on blood tests without true hyperthyroidism.

is a genetic skin disorder causing fragile, blistering skin and scarring.

is a rare inherited skin disorder causing itchy, fragile, blistering skin.

are inherited eye disorders that damage the retina and cause vision loss.

is a rare eye disease causing retinal inflammation and vision problems.

is a rare genetic condition affecting ear shape, kneecaps, and growth.

is a bacterial infection passed during pregnancy that affects newborn babies.

is a severe seizure disorder that begins in infancy and affects development.

is an early-stage cervical cancer starting in mucus-producing gland cells.

is a rare newborn epilepsy with sudden muscle jerks and developmental impairment.

is a childhood epilepsy causing brief staring spells and awareness lapses.

is a bacterial skin infection that mainly affects children in tropical areas.

is a usually mild cataract at the front of the eye lens.

is a rare disorder causing early movement problems and worsening dementia.

is a rare inherited disorder causing immune deficiency, inflammation, and autoimmunity.

is a rare inherited Alzheimer’s starting before 65, with progressive memory loss.

is a rare genetic disorder affecting brain white matter and bone development.

causes early balance and coordination problems despite preserved reflexes.

is a movement disorder causing early muscle spasms and leg stiffness.

is a rare genetic seizure disorder beginning in infancy or early childhood.