Rare Disease Library

Testicular regression syndrome

ETRS · Embryonic testicular regression syndrome

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome · TEBC syndrome

KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome

PERCHING syndrome

TEMPI syndrome

Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome

Temple syndrome

Yunis-Varon syndrome

Cleidocranial dysplasia-micrognathia-absent thumbs syndrome