Rare Disease Library

Birk-Barel syndrome

Intellectual disability-hypotonia-facial dysmorphism syndrome · Birk-Barel Intellectual Disability-Dimorphism syndrome

22q11.2 deletion syndrome

22q11DS · CATCH 22

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

IMAGe syndrome

Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome

Onycho-tricho-dysplasia-neutropenia syndrome

Itin syndrome · ONMR syndrome

Prader-Willi syndrome due to imprinting mutation

Silent sinus syndrome

Imploding antrum syndrome · CMA grade 3