MRPS25

mitochondrial ribosomal protein S25
OMIM: 611987, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red MRPS25 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 50, MIM# 619025
  • Dyskinetic cerebral palsy
  • Mitochondrial myopathy
  • Partial agenesis of the corpus callosum

Red MRPS25 in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 50, MIM# 619025
  • Dyskinetic cerebral palsy
  • Mitochondrial myopathy
  • Partial agenesis of the corpus callosum