BUD13:Ensemblv90

BUD13 homolog
ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber BUD13 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.28

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

Amber BUD13 in Mendeliome


Version 1.3802

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

Amber BUD13 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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