phosphate cytidylyltransferase 2, ethanolamine
OMIM: 602679
PanelMode of inheritanceDetails
1 panel
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
Global developmental delay, Developmental regression, Intellectual disability, Spastic paraparesis, Seizures, Spastic tetraparesis, Cerebral atrophy, Cerebellar atrophy