CEP43

centrosomal protein 43
OMIM: 605392, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber CEP43 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.1

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Ciliopathy, MONDO:0005308, CEP43-related

Amber CEP43 in Mendeliome


Version 2.268

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ciliopathy, MONDO:0005308, CEP43-related