is a rare genetic disorder causing glycine buildup and neurological problems.

is a rare disease causing small-vessel clots, anemia, and kidney failure.

is a rare autoimmune complement disease causing anemia, low platelets, kidney failure.

is a rare complement-mediated disease causing clots, anemia, low platelets, kidney injury.

is a rare genetic nerve disorder causing reduced pain sensation and injuries.

is a rare genetic disorder with low muscle tone and developmental delays.

causes early-onset movement symptoms like stiffness, slowness, and tremor; often genetic.

is a rare skin condition with waxy bumps from mucin buildup.

involves benign pelvic tumors with pleural or abdominal fluid, improving after removal.

is a peripheral nerve tumor with atypical cells, needing close follow-up.

is an X-linked condition causing early blindness, hearing loss, developmental delays.

is a rare genetic neurodegenerative disorder with gradual movement and speech problems.

is a rare brain tumor of the choroid plexus, sometimes causing hydrocephalus.

is a rare, usually benign uterine polyp-like growth causing abnormal bleeding.

is a rare brain disorder causing balance, eye movement, thinking problems.

is a Rett spectrum disorder with variable onset, regression, and movement problems.

is a rare, fast-growing childhood brain and spinal cord cancer.

is a rare genetic disorder causing heart rhythm problems and developmental differences.

is a rare genetic disorder causing premature aging and related complications.

is a reflex epilepsy where sudden loud sounds trigger seizures.

is a brain processing disorder causing difficulty recognizing sounds despite normal hearing.

is a rare genetic disorder causing progressive hearing and vision loss.

is a noncancerous growth affecting hearing and sometimes balance pathways.

is cancer of ear or auditory pathways causing hearing and balance issues.