RRP12

ribosomal RNA processing 12 homolog
OMIM: 617723, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber RRP12 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 1.100

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    • Literature
    Phenotypes
    • Syndromic disease, MONDO:0002254, RRP12-related
    • Brain calcifications

    Amber RRP12 in Mendeliome


    Version 1.3523

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Syndromic disease, MONDO:0002254, RRP12-related
    • Brain calcifications