NUF2

NUF2, NDC80 kinetochore complex component
OMIM: 611772, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red NUF2 in Severe microcephaly


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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • microcephaly
  • short stature
  • bilateral vocal cord paralysis
  • micrognathia
  • atrial septal defect