Rare Disease Library

Isolated lower lip fistula

Isolated lower lip pits · Non-syndromic familial congenital lower lip pits

Congenital long QT syndrome

Congenital LQTS

Congenital sodium diarrhea

Na-H exchanger 3 deficiency · CSD

Non-syndromic congenital bronchial atresia

Non-syndromic CBA

Non-syndromic congenital phagocyte functional defect

Non-syndromic constitutional functional phagocyte defect · Non-syndromic congenital functional defect of phagocytes

Persistent hyperplastic primary vitreous

Non-syndromic congenital retinal non-attachment · PFVS

Rare congenital non-syndromic heart malformation