is a very rare genetic condition causing bowed legs and short stature.

is a rare genetic disorder causing small head size and severe disability.

is a rare genetic disorder causing severe movement, hearing, and learning problems.

is a rare condition causing severe nearsightedness, loose joints, and short stature.

is a rare genetic disorder causing newborn weakness, seizures, and encephalopathy.

is a rare inherited disorder causing life-threatening lactic acid buildup in newborns.

is a brain disorder causing small head size (microcephaly) and developmental delays.

is a rare genetic disorder causing progressive brain decline and fat loss.

causes developmental delay, feeding difficulties, repetitive hand movements, and cataracts.

is advanced diabetic eye disease that damages retinal blood vessels and vision.

is a rare genetic disorder affecting the eyes, kidneys, and brain.

is a rare genetic disorder causing high uric acid and neurologic problems.

is a serious pregnancy complication causing high blood pressure and organ damage.

is a rare inherited disorder causing a strong fishy body odor.

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

is a rare inherited disorder affecting mitochondria, brain function, and development.

is a genetic condition affecting sex development and related physical traits.

is a rare tumor that develops in the ovary or testis.

is a usually noncancerous tumor that develops in the ovary's supporting tissues.

is a rare testicular tumor arising from hormone-producing support cells.

is a genetic condition caused by an unusual number of sex chromosomes.

is a genetic condition caused by an unusual number of sex chromosomes.

is a chromosome condition caused by changes in X or Y structure.

is persistent difficulty with sexual desire, arousal, orgasm, or pain.