Phosphoserine aminotransferase deficiency, infantile/juvenile form
ORPHA:284417· ICD-10 E72.8
Definition
A rare form of serine deficiency syndrome characterized clinically by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal