BUD13

BUD13 homolog
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber BUD13 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Achalasia-progeroid syndrome, MIM# 621123

Amber BUD13 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Achalasia-progeroid syndrome, MIM# 621123