Barth syndrome
E80.2 Other and unspecified porphyria Notes: Porphyria NOS ; Hereditary coproporphyria
Other and unspecified porphyria Notes: Porphyria NOS ; Hereditary coproporphyria
E74.2 Disorders of galactose metabolism Notes: Galactokinase deficiency
Disorders of galactose metabolism Notes: Galactokinase deficiency
E75.0 GM2 gangliosidosis Notes: Adult GM2 gangliosidosis ; Juvenile GM2 gangliosidosis
GM2 gangliosidosis Notes: Adult GM2 gangliosidosis ; Juvenile GM2 gangliosidosis
E75.242 Niemann-Pick disease type C
Niemann-Pick disease type C
E77.9 Disorder of glycoprotein metabolism, unspecified
Disorder of glycoprotein metabolism, unspecified
E78.72 Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome
