PSPH

phosphoserine phosphatase
OMIM: 172480
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PHOSPHOSERINE PHOSPHATASE DEFICIENCY 614023, NEU-LAXOVA 256520
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PHOSPHOSERINE PHOSPHATASE DEFICIENCY, NEU-LAXOVA
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PHOSPHOSERINE PHOSPHATASE DEFICIENCY
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phosphoserine phosphatase deficiency 614023