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 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.67
Latest signed off version: v4.0 (22 Mar 2023)

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