Phosphoserine phosphatase deficiency

(PSPH deficiency)

Type

Disease
External link(s)
- IEMbase
Gene
- PSPH / Phosphoserine Phosphatase
  7p11.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphoserine phosphatase
Pathway
- Glycine and serine metabolism
Disease group(s)
- 1.6 Disorders of glycine and serine metabolism
Child entries
- Phosphoserine phosphatase deficiency, infantile/juvenile form
- PSPH-related Neu-Laxova syndrome