RRP7A

ribosomal RNA processing 7 homolog A
Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber RRP7A in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.88
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephaly