OXR1

oxidation resistance 1
OMIM: 605609, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

No list OXR1 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.56
Signed off v.2.2 on 13 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Central hypotonia
  • Global developmental delay
  • Delayed speech and language development
  • Intellectual disability
  • Seizures
  • Abnormality of the cerebellum

No list OXR1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.66
Signed off v.3.2 on 13 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Central hypotonia
    • Global developmental delay
    • Delayed speech and language development
    • Intellectual disability
    • Seizures
    • Abnormality of the cerebellum