IFT57

intraflagellar transport 57
OMIM: 606621, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber IFT57 in Bardet Biedl syndrome


Level 2: Ophthalmology
Version 2.9
Latest signed off version: v2.0 (30 Nov 2022)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Bardet-Biedl syndrome, MONDO:0015229