C7orf43

chromosome 7 open reading frame 43
Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber C7orf43 in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephaly 25, primary, autosomal recessive, OMIM:618351
  • Microcephaly 25, primary, autosomal recessive, MONDO:0032694
Tags
  • new-gene-name