is a rare genetic disorder causing persistent infant diarrhea and dehydration.

is a group of inherited disorders affecting glycosylation, causing multi-organ symptoms.

is an inherited, present-from-birth disorder disrupting protein glycosylation, causing multisystem problems.

is a rare inherited condition affecting protein glycosylation, causing multi-system symptoms.

is a rare inherited condition affecting protein glycosylation, causing multisystem developmental problems.

is a rare inherited disorder affecting protein glycosylation, causing multi-system problems.

is a rare inherited glycosylation disorder causing heart defects and multisystem problems.

is a rare inherited condition affecting sugar modification (glycosylation), causing deafness.

is a rare genetic disorder of glycosylation causing multi-system developmental issues.

is a rare genetic glycosylation defect causing enlarged, weakened heart muscle.

is a rare genetic disorder of protein glycosylation, with seizures prominent.

is a rare genetic condition causing improper protein glycosylation and liver disease.

is a genetic disorder disrupting protein glycosylation, causing intestinal and systemic problems.

is a rare inherited glycosylation disorder causing prominent kidney disease (nephropathy).

is a genetic condition affecting protein glycosylation, causing multisystem neurological problems.

is a genetic condition affecting protein glycosylation, causing skin and systemic symptoms.

is a rare genetic glycosylation disorder causing bone abnormalities and growth problems.

is a rare inherited disorder of red blood cell development (anemia).

is a rare inherited disorder of red cell development causing anemia.

is a rare inherited blood disorder causing abnormal red cells and anemia.

is an inherited blood disorder causing ineffective red cell production and anemia.

is an outward-turned eyelid at birth causing irritation and tearing.

is a rare, present-at-birth eye condition with iris changes, glaucoma risk.

is a congenital, bilateral (both sides) elbow dislocation at birth.