- Synonym(s)
- Autosomal recessive spastic paraplegia type 54
- TypeDisease
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- Diseases
- LIPID METABOLISM AND TRANSPORT
- 14 Disorders of lipid metabolism
- 14.5 Disorders of glycerophospholipid metabolism
- 14.5.1 Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism
- Ethanolaminephosphotransferase 1 deficiency
- Choline kinase alpha deficiency
- Choline kinase beta deficiency
- Phosphocholine cytidylyltransferase 1 alpha deficiency, retinoskeletal phenotype
- Phosphocholine cytidylyltransferase 2 deficiency
- PTDSS1-related disease
- Phosphatidylserine flippase deficiency
- Phospholipid transporter ATPase 11A deficiency
- Phospholipid transporter ATPase 11C deficiency
- Lysophosphatidylinositol acyltransferase 1 deficiency
- Phospholipase A2 group 6 deficiency
- DDHD1 deficiency
- DDHD2 deficiency
- PNPLA6 deficiency
- ABHD16A deficiency
- ABHD12 deficiency
- CYP2U1 deficiency
- Diacylglycerol kinase epsilon deficiency
- Lipase H deficiency
- Lysophosphatidic acid receptor 6 deficiency
- Lysophosphatidylcholine-esterified long-chain fatty acid transporter deficiency
- Fatty acid amide hydrolase 2 deficiency
- Scott syndrome
- 14.5.1 Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism
- 14.5 Disorders of glycerophospholipid metabolism
- 14 Disorders of lipid metabolism
- LIPID METABOLISM AND TRANSPORT
- Genes
- Gene products
- Pathways
- Multimers
- More information
- Home
- Diseases
- LIPID METABOLISM AND TRANSPORT
- 14 Disorders of lipid metabolism
- 14.5 Disorders of glycerophospholipid metabolism
- 14.5.1 Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism
- Ethanolaminephosphotransferase 1 deficiency
- Choline kinase alpha deficiency
- Choline kinase beta deficiency
- Phosphocholine cytidylyltransferase 1 alpha deficiency, retinoskeletal phenotype
- Phosphocholine cytidylyltransferase 2 deficiency
- PTDSS1-related disease
- Phosphatidylserine flippase deficiency
- Phospholipid transporter ATPase 11A deficiency
- Phospholipid transporter ATPase 11C deficiency
- Lysophosphatidylinositol acyltransferase 1 deficiency
- Phospholipase A2 group 6 deficiency
- DDHD1 deficiency
- DDHD2 deficiency
- PNPLA6 deficiency
- ABHD16A deficiency
- ABHD12 deficiency
- CYP2U1 deficiency
- Diacylglycerol kinase epsilon deficiency
- Lipase H deficiency
- Lysophosphatidic acid receptor 6 deficiency
- Lysophosphatidylcholine-esterified long-chain fatty acid transporter deficiency
- Fatty acid amide hydrolase 2 deficiency
- Scott syndrome
- 14.5.1 Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism
- 14.5 Disorders of glycerophospholipid metabolism
- 14 Disorders of lipid metabolism
- LIPID METABOLISM AND TRANSPORT
- Genes
- Gene products
- Pathways
- Multimers
- More information