DHPS

deoxyhypusine synthase
OMIM: 600944
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abnormality of head or neck, Seizures, EEG abnormality, Behavioral abnormality, Abnormal muscle tone, Intellectual disability, Global developmental delay
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
Abnormality of head or neck, Seizures, Abnormal muscle tone, Global developmental delay, Intellectual disability, Seizures, EEG abnormality, Behavioral abnormality, Abnormality of head or neck, EEG abnormality, Behavioral abnormality, Abnormal muscle tone, Intellectual disability, Global developmental delay