is a rare genetic brain development disorder with several structural abnormalities.

is an enlarged colon that can cause severe constipation and bloating.

is a genetic muscle disorder causing weakness, developmental delays, and mitochondrial changes.

is a rare urinary tract disorder causing an enlarged bladder and ureters.

is a rare genetic disorder causing enlarged bladder and severe intestinal problems.

is widening of the esophagus that makes swallowing and feeding difficult.

is a rare acute leukemia affecting platelet-forming cells, usually in infants.

is a genetic brain disorder with enlarged head and white matter changes.

is a rare genetic brain disease causing early macrocephaly, movement delays, seizures.

is a rare inherited brain disorder causing large head and delayed development.

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

is an unusually large brain, often linked to developmental problems.

is a rare genetic condition causing brain overgrowth, skin vessel changes, and polymicrogyria.

is a rare genetic syndrome affecting brain growth, development, and limb formation.

is a rare genetic disorder with enlarged brain, overgrowth, and severe scoliosis.

is anemia with large, immature red cells from vitamin B12/folate deficiency.

is a rare genetic condition causing enlarged corneas and intellectual disability.

is a rare inherited mitochondrial disorder affecting movement, hearing, and development.

is a rare inherited condition affecting brain development, hormones, growth, and genitals.

is a painless lump on the eyelid caused by a blocked oil gland.

is a rare condition causing short stature, small ears, and absent kneecaps.

is a rare genetic condition with short stature, small ears, absent kneecaps.

is a rare condition causing short stature, small ears, and kneecap problems.

is a rare genetic condition causing very small size and skeletal differences.