PPP1R15B

protein phosphatase 1 regulatory subunit 15B
OMIM: 613257
PanelMode of inheritanceDetails
2 panels
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
Microcephaly, short stature, and impaired glucose metabolism 2, 616817
R-numbers: R141
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817