Phosphoserine aminotransferase deficiency
Characterized biochemically by low plasma and cerebrospinal fluid concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation.
| Name | Development Level | Target Family |
|---|
| Name | Description |
|---|
TCRDv4.6.9
UniProt Disease
UniProt Disease