You are using an outdated browser. Please upgrade your browser to improve your experience.

PSPH deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description 3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome.
Uniprot Description An autosomal recessive disorder that results in pre- and postnatal growth retardation, moderate psychomotor retardation and facial features suggestive of Williams syndrome.
Disease Ontology Description A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine.
Mondo Term and Equivalent IDs
MONDO:0013531:  PSPH deficiency
Orphanet:79350: 
SCTID:124432005: 
UMLS:C1291463: