- TypeGroup
- Disease group(s)
- Child entries
- Serine palmitoyltransferase deficiency
- ST3GAL5-CDG
- B4GALNT1-CDG
- 3-Phosphoglycerate dehydrogenase deficiency
- Serine palmitoyltransferase small subunit A deficiency
- Phosphoserine aminotransferase deficiency
- 3-Ketodihydrosphingosine reductase deficiency
- A4GALT-CDG
- Phosphoserine phosphatase deficiency
- Ceramide synthase 1 deficiency
- Ceramide synthase 2 deficiency
- Ceramide synthase 3 deficiency
- TLCD3B deficiency
- Dihydroceramide desaturase deficiency
- Alkaline ceramidase 3 deficiency
- CYP4F22 omega hydroxylase deficiency
- Fatty acid transport protein 4 deficiency
- Acylceramide transacylase deficiency
- UDP-glucose ceramide glucosyltransferase deficiency
- ABCA12 lipid transporter deficiency
- Arachidonate 12-lipoxygenase, R type deficiency
- Arachidonate lipoxygenase 3 deficiency
- SDR9C7 deficiency
- Lipase N deficiency
- Nonlysosomal glucosylceramidase deficiency
- Fatty acid 2-hydroxylase deficiency
- Sphingosine-1-phosphate lyase deficiency
- Sphingosine-1-phosphate transporter deficiency
- Sphingomyelin synthase 2 deficiency