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GTR Home > Conditions/Phenotypes > Deficiency of phosphoserine phosphatase

Deficiency of phosphoserine phosphatase

Synonyms
PSPH deficiency; Phosphoserine phosphatase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

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). [from ORDO]

Available tests

17 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (17 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: PSP, PSPHD, PSPH
    Summary: phosphoserine phosphatase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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