is a rare genetic disorder affecting learning, seizures, bones, and eyes.

is a rare genetic condition causing developmental delay, seizures, macrocephaly, and obesity.

causes intellectual disability, severe speech delay, and mild physical differences.

is a rare genetic condition causing intellectual disability, short stature, wide-set eyes.

is a genetic condition causing intellectual disability, spasticity, and limb differences.

is a rare genetic condition causing intellectual disability and misaligned eyes.

is a rare genetic condition causing developmental delay and low muscle tone.

is a rare genetic condition causing intellectual disability and delayed development.

is a condition causing below-average intellectual functioning and difficulties with daily living.

is a hole between the heart’s upper chambers present at birth.

are birth differences where part of a limb does not form.

is a very rare cancer of immune system dendritic cells.

is a rare inherited immune disorder causing very low T cells.

is a heart birth defect affecting the walls and valves between chambers.

is a rare eye cancer arising from pigment cells in the choroid.

is a rare eye cancer affecting pigment cells in the ciliary body.

is an inherited nerve disorder causing gradual weakness, numbness, and balance problems.

is a genetic muscle disorder causing weakness and movement problems.

is a heart problem causing reduced blood flow to the heart.

is a rare genetic disorder with neonatal diabetes and developmental delay.

causes fragile skin with blistering and can also affect the heart.

is a genetic skin disorder causing blistering, wounds, and sometimes growth problems.

is a rare cancerous germ cell tumor containing several tissue types.

is a rare inherited disorder affecting how the body processes protein.