Rare Disease Library

KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome

Alkuraya-Kucinskas syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome