dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
developmental and epileptic encephalopathy, 35
elliptocytosis 2
familial juvenile hyperuricemic nephropathy type 1
familial pseudohyperkalemia
glycogen storage disease due to aldolase A deficiency
glycogen storage disease VII
hemolytic anemia due to adenylate kinase deficiency
Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder +
hemolytic anemia due to diphosphoglycerate mutase deficiency
hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.
hemolytic anemia due to glutathione reductase deficiency
Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies +
hemolytic anemia due to pyrimidine 5' nucleotidase deficiency