is a fast-growing, high-risk cerebellar brain tumor, often in children.

is an eye condition where narrow angles raise pressure and threaten vision.

is a rare genetic skeletal disorder causing short stature and skeletal problems.

is a rare genetic bone growth disorder causing extreme short stature.

is a rare genetic bone disorder causing severe short stature and abnormalities.

is a rare genetic skeletal condition causing severe, disproportionate short stature.

is a hookworm infection causing intestinal blood loss and anemia.

is a rare genetic disorder causing periodic paralysis and heart arrhythmias.

is hereditary pattern hair loss causing gradual thinning in men and women.

is a rare encephalopathy causing sudden brain swelling after common infections.

is a condition with too few healthy red cells or hemoglobin.

is low red blood cell levels in preterm infants from immature production.

is a fever without rash, often due to various infections.

is a rare aortic root bulge that can leak or rupture.

is a genetic connective tissue disorder causing artery aneurysms and early osteoarthritis.

is a benign, blood-filled bone growth causing pain, swelling, and fractures.

is a rare genetic bone disorder causing short fingers and joint problems.

is a rare genetic disorder causing developmental delays, seizures, and balance problems.

is a genetic disorder from UBE3A point mutation, causing developmental disabilities.

is a genetic imprinting disorder causing developmental delay, minimal speech, seizures, ataxia.

is a neurogenetic condition from maternal 15q11-q13 deletion causing developmental delays, seizures.

causes developmental delays, limited speech, seizures, and movement problems.

is a rarely described syndrome with uncertain features and limited research.

is a rare, slow-growing brain tumor causing seizures in children.