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3-phosphoserine phosphatase deficiency

Orpha number ORPHA79350
Synonym(s) -
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • E72.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 124432005

Summary

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).


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