- Rare neurologic disease
- 3-Phosphoglycerate dehydrogenase deficiency ORPHA:422519
- 3-phosphoserine phosphatase deficiency ORPHA:79350
- Phosphoserine aminotransferase deficiency ORPHA:284417
- Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome ORPHA:447997
- Neurometabolic disease
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