"Aldolase A" deficiency with syndrome of growth and developmental retardation, midfacial hypoplasia, hepatomegaly, and consanguineous parents.
D000743:Anemia, Hemolytic / Q000175:diagnosis; D003241:Consanguinity; D005145:Face / Q000002:abnormalities; D005634:Fructose-Bisphosphate Aldolase / Q000172:deficiency*; D006130:Growth Disorders / Q000175:diagnosis*; D006529:Hepatomegaly / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis; D008297:Male; D013577:Syndrome
D005634:Fructose-Bisphosphate Aldolase