RRP12

ribosomal RNA processing 12 homolog
OMIM: 617723, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber RRP12 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Basal ganglia calcification, idiopathic, 11, autosomal recessive, MIM# 621452

Amber RRP12 in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Basal ganglia calcification, idiopathic, 11, autosomal recessive, MIM# 621452