FAM83H

family with sequence similarity 83 member H
OMIM: 611927, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green FAM83H in Amelogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Amelogenesis imperfecta, type III, 130900
  • Amelogenesis Imperfecta, Type III, 130900
  • Hypocalcified AI